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Autopsy
Kinds of Autopsy Terms modified by Autopsy Selected AbstractsROLE OF TEACHING AUTOPSY IN CONTEMPORARY SURGICAL PRACTICEANZ JOURNAL OF SURGERY, Issue 9 2007Professor Jeffrey M. Hamdorf FRACS No abstract is available for this article. [source] Identification of the motilin cells in duodenal epithelium of premature infantsPEDIATRICS INTERNATIONAL, Issue 3 2005Toshiya Nishikubo AbstractBackground:,The aim of the present study was to examine the presence of motilin in the duodenal epithelial cells of premature infants of <32 weeks gestation. Methods:,Specimens from 10 deceased infants (gestational age: 26.4 ± 2.7 weeks and birthweight: 808 ± 303 g) were examined as subjects. All infants died of severe cardiopulmonary disorder or intraventricular hemorrhage (grade IV). The average survival period was 3.1 ± 1.9 days. Autopsies were performed and formalin-fixed duodenums were immunostained with rabbit antiserum to motilin by the labeled streptavidin,biotin (LSAB) method. An adult duodenum obtained by pancreatoduodenectomy was also examined for the presence of motilin as a positive control specimen. An absorption test using motilin peptide was performed to prove the specificity of the binding with rabbit antiserum to motilin. Results:,Motilin-containing cells were detected in the adult specimen, and the binding by rabbit antiserum to motilin was completely inhibited by excess amounts of motilin peptide, indicating that this binding was specific to motilin. All 10 infants had presence of motilin antigen in the epithelial cells of their duodenums. Conclusion:,This preliminary study indicates that the immunohistological analysis is specific to detect motilin-containing cells, and certifies the presence of motilin in duodenal epithelial cells of premature infants of <32 weeks gestation, including one at only 22 weeks gestation. [source] Vanishing white matter disease: A review with focus on its geneticsDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 2 2006Jan C. Pronk Abstract Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive brain disorder, most often with a childhood onset. Magnetic resonance imaging and spectroscopy indicate that, with time, increasing amounts of cerebral white matter vanish and are replaced by fluid. Autopsy confirms white matter rarefaction and cystic degeneration. The process of localization and identification of the first two genes related to VWM, EIF2B5 and EIF2B2, was facilitated by two founder effects in the Dutch population. EIF2B5 and EIF2B2 encode the , and , subunits of translation initiation factor eIF2B. Soon it was shown that mutations in all five eIF2B subunit genes can cause VWM. EIF2B is essential for the initiation of translation of RNA into protein and is involved in regulation of the process, especially under stress conditions, which may explain the sensitivity to stress conditions observed in VWM patients. The pathophysiology of the disease is still poorly understood. MRDD Research Reviews 2006;12:123,128. © 2006 Wiley-Liss, Inc. [source] Staphylococcus aureus Infective Endocarditis Mimicking a Hydatid CystECHOCARDIOGRAPHY, Issue 8 2010Jeroen Walpot M.D. We report an atypical echocardiographic presentation of Staphylococcus aureus infective endocarditis (IE) of the mitral valve in an octogenarian female. Echocardiography revealed perforation of the anterior mitral valve leaflet (AMVL), with a large cystic mass seemingly attached to the AMVL and surrounded by a thin membranous structure. These images were strongly reminiscent of a hydatid cyst. The significant comorbidity of the patient did not justify an urgent surgical approach, and the patient subsequently expired of cardiogenic and septic shock. Autopsy revealed a large vegetation attached to the interatrial septum in the immediate proximity of the AMVL, without signs of the membranous structure and without pathological evidence for septic embolism. This atypical presentation of IE prompted us to discuss a brief review of intracardiac cystic masses. (Echocardiography 2010;27:E80-E82) [source] Autopsy of Change: Contextualising Entrepreneurial and Accounting Potential in the NHSFINANCIAL ACCOUNTABILITY & MANAGEMENT, Issue 4 2000Sue Richardson Set in the context of New Public Management (NPM), this paper uses two NHS Pathology departments to provide a clearer picture of what reforms have really achieved. Contrasting illustrations of management processes, entrepreneurialism and accounting practices are provided in the case studies. The paper seeks to explain these differences and concludes that the impact of NPM, in terms of entrepreneurial management and accounting practices, is not just contingent upon the type of activity undertaken but also upon the ,antecedent conditions of possibility' embedded therein and the personality and competence of individuals managing front line change. [source] Congenital lung malformations in the second trimester: Prenatal ultrasound diagnosis and pathologic findingsJOURNAL OF CLINICAL ULTRASOUND, Issue 5 2007Ágnes Harmath MD Abstract Purpose. To correlate prenatal sonographic diagnosis of cystic lung malformations with fetopathologic findings after termination of pregnancy. Methods. We retrospectively analyzed the data of 16 terminated cases in which a cystic lung lesion was diagnosed pre- or postnatally. Results. On average, prenatal diagnosis was established on the 21st gestational week (range, 19,26 weeks). The cause of termination was severe polyhydramnios in 4 cases, nonimmune fetal hydrops in 4 cases, other congenital malformation in 5 cases (renal malformation, 2 cases; congenital diaphragmatic hernia, 3 cases), and obstetrical conditions (intrauterine death, placental abruption, spontaneous abortion) in 3 cases. In 11 cases, congenital cystic adenomatoid malformation (CCAM) was the presumptive prenatal diagnosis. Autopsy confirmed the prenatal diagnosis in 6 of them, while in the other 5 cases, an enteric cyst, a laryngeal atresia, an unidentified tumor, a pulmonary hypoplasia, and an extralobar pulmonary sequestration were found on histologic examination. On the other hand, the autopsy revealed CCAM in those 5 cases in which other malformations were suggested prenatally. Conclusion. The prenatal sonographic diagnosis of CCAM is difficult. Our cases emphasize the important role of fetopathology even today in the verification of prenatal diagnosis based on sonographic examinations. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2007 [source] Histopathologic Differential Diagnosis of Subepidermal Cutaneous Blisters and Erosions at AutopsyJOURNAL OF CUTANEOUS PATHOLOGY, Issue 1 2005C. Kovarik The histopathologic differential diagnosis of subepidermal blisters is broad and most commonly includes primary dermatologic diseases (i.e. bullous pemphigoid), secondary blistering conditions (i.e. bullous lichen planus), and drug reactions (i.e. toxic epidermal necrolysis); however, when examining blister specimens taken during autopsy, several other entities need to be added to the differential diagnosis. For one year, we biopsied cutaneous blisters and erosions found during autopsies performed at the Dallas County Medical Examiner's Office and examined them histologically. The objective of this study was to determine the primary cause of blisters and erosions seen at autopsy, characterize them histologically in order to allow differentiation from other blistering conditions, and emphasize causes of subepidermal blisters that are often not considered in the differential diagnosis. We present eight representative cases in order to illustrate the following points. The majority of blisters and erosions examined were subepidermal and secondary to physical causes, such as burns, defibrillation, submersion, fetal maceration, and decomposition. Although primary skin conditions need to be considered when examining blisters and erosions at autopsy, the most common entities are secondary to physical causes, and these need to be included in the differential diagnosis in order to obtain an accurate diagnosis. [source] Review of: Dental AutopsyJOURNAL OF FORENSIC SCIENCES, Issue 6 2009Mary A. Bush D.D.S. No abstract is available for this article. [source] Three Unusual Neuropathologic-Related Causes of Sudden Death,JOURNAL OF FORENSIC SCIENCES, Issue 3 2008Dennis J. Chute M.D. Abstract:, We discuss the autopsy findings of three medico-legal cases of sudden death associated with uncommon neuropathologic findings of which the general forensic pathologist may not be familiar. Case 1 was a 43-year-old man who died of a seizure due to malignant melanoma of the temporal lobe associated with neurocutaneous melanosis (NCM). Case 2 was a 57-year-old woman with a history of mental retardation and incoordination because of chronic lead poisoning, who died of a pulmonary thromboembolism due to deep venous thrombosis status post left leg fracture after a fall down a staircase. Autopsy revealed atrophy and gliosis of her cerebellum as a result of childhood lead poisoning. The third patient was a 75-year-old woman who died as a result of acute bacterial leptomeningitis at the cervico-medullary junction with acute inflammation of the connective tissue of her upper cervical spinal column associated with subluxation of her atlantoaxial (AA) joint, also known as Grisel's syndrome. [source] Sudden Death from Tubercular MyocarditisJOURNAL OF FORENSIC SCIENCES, Issue 3 2006Enrico Silingardi M.D. ABSTRACT: Tuberculous myocarditis is a rare finding. We present the case of a 33-year-old woman who was in good health and who died suddenly at home. Autopsy and histopathologic examinations revealed granulamatous lesions in the myocardium, lungs, lymph nodes, liver, and spleen. No fast acid bacilli were demonstrated on histological examination. The presence of a Mycobacterium tuberculosis DNA complex was identified using a polymerase chain reaction (PCR) on formalin-fixed paraffin-embedded histological samples. An HIV test carried out on the blood obtained during the autopsy was negative according to the DNA amplification technique (PCR) and enzyme-linked immunosorbent assay serological test. We hypothesize that the mechanism of death was severe ventricular arrhythmia due to granulomatous proliferation in the structures of the interventricular septum. [source] Radiation-induced brain disorders in patients with pituitary tumoursJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2004A Bhansali Summary Radiation-induced brain disorders (RIBD) are uncommon and they are grave sequelae of conventional radiotherapy. In the present report, we describe the clinical spectrum of RIBD in 11 patients who received post-surgery conventional megavoltage irradiation for residual pituitary tumours. Of these 11 patients (nine men, two women), seven had been treated for non-functioning pituitary tumours and four for somatotropinomas. At the time of irradiation the age of these patients ranged from 30 to 59 years (mean, 39.4 ± 8.3; median, 36) with a follow-up period of 6,96 months (mean, 18.3 ± 26.4; median, 11). The dose of radiation ranged from 45 to 90 Gy (mean, 51.3 ± 13.4; median, 45), which was given in 15,30 fractions (mean, 18.6 ± 5.0; median, 15) with 2.8 ± 0.3 Gy (median, 3) per fraction. The biological effective dose calculated for late complications in these patients ranged from 78.7 to 180 Gy (mean, 99.1 ± 27.5; median, 90). The lag time between tumour irradiation and the onset of symptoms ranged from 6 to 168 months (mean, 46.3 ± 57.0; median, 57). The clinical spectrum of RIBD included new-onset visual abnormalities in five, cerebral radionecrosis in the form of altered sensorium in four, generalized seizures in four, cognitive dysfunction in five, dementia in three and motor deficits in two patients. Magnetic resonance imaging (MRI)/CT of the brain was suggestive of radionecrosis in eight, cerebral oedema in three, cerebral atrophy in two and second neoplasia in one patient. Associated hormone deficiencies at presentation were hypogonadism in eight, hypoadrenalism in six, hypothyroidism in four and diabetes insipidus in one patient. Autopsy in two patients showed primitive neuroectodermal tumour (PNET) and brainstem radionecrosis in one, and a cystic lesion in the left frontal lobe following radionecrosis in the other. We conclude that RIBD have distinctive but varying clinical and radiological presentations. Diabetes insipidus and PNET as a second neoplastic disorder in adults following pituitary irradiation have not been reported previously. [source] Disseminated intravascular large-cell lymphoma with initial presentation mimicking Guillain,Barré syndromeMUSCLE AND NERVE, Issue 1 2010Qin Li Jiang MD Abstract We report a patient with intravascular large B-cell lymphoma who initially presented with acute ascending weakness and sensory changes. Electrodiagnostic testing and cerebral spinal fluid (CSF) studies were initially suggestive of a demyelinating polyneuropathy. Further clinical evaluation and testing were consistent with mononeuropathy multiplex. Autopsy revealed disseminated intravascular large-cell lymphoma. Intravascular large-cell lymphoma should be considered in the differential diagnosis of a rapidly evolving neuropathy associated with other organ involvement. Muscle Nerve, 2010 [source] Is there a need for autopsies in the management of fungal disease?MYCOSES, Issue 4 2008Manfred Knoke Summary The autopsy rates in Germany became low like in other European, American and Asian countries. Main reasons for this development are the lack of acceptance of autopsy in the society as well as in the medical profession, the introduction of a requirement for consent, unclear legal position, the public health system, pressure of costs and a change in the field of activity in pathology with much more diagnostics of surgical and biopsy material. The autopsy is missing with respect to the reliability of causes of death and morbidity statistics and other epidemiological studies. Published data indicate that up to 20,30% of patients who die in hospitals have important diseases/lesions that remain undetected before death but that are found at autopsy. For infectious diseases, the data are similar. Therefore, a higher incidence of invasive fungal infections was found. Some rare fungal disorders are diagnosed by autopsy. Only exact death statistics makes specific health care possible and is cost saving in a public health system in the long term. Autopsy remains an important tool for quality control in medical diagnostic and therapeutic activity. It is also essential for fundamental medical education and further training. [source] Lethal otogenic Candida meningitisMYCOSES, Issue 9-10 2004S. Koch Candidose; otomykose; meningitis; autopsie Summary A 61-year-old woman with clinical signs of meningitis/encephalitis was admitted to hospital in a somnolent state. Inquiries with regard to the history revealed a chronic obstructive pulmonary condition which had been treated with prednisolone for a long time. There was a raised temperature with further signs of an acute inflammatory underlying disease and internal hydrocephalus. After performing trepanation, the symptoms of raised intercerebral pressure ceased. Candida albicans could be detected microbiologically in the cerebrospinal fluid. There was no pneumonia at the time of admission. Despite instituting immediate intensive care with administration of antibiotics and antimycotics, the patient died 11 days after inpatient admission. Autopsy revealed a C. albicans mycosis originating from the right middle ear with extensive suppurative meningitis, which was the immediate cause of death. Confluent bronchopneumonia had developed in both lower lung lobes at the time of death, but did not show any signs of mycosis and had contributed indirectly to the death of the patient. Zusammenfassung Eine 61jährige Frau wurde mit klinischen Zeichen einer Meningitis/Enzephalitis in somnolentem Zustand stationär aufgenommen. Anamnestisch war eine chronisch-obstruktive Lungenerkrankung eruierbar, die langzeitig mit Prednisolon behandelt wurde. Es bestanden eine erhöhte Körpertemperatur, weitere Zeichen einer akuten entzündlichen Grunderkrankung und ein Hydrocephalus internus. Nach erfolgter Bohrlochtrepanation sistierte die Hirndrucksymptomatik, wobei mikrobiologisch ein Nachweis von Candida albicans im Liquor cerebrospinalis gelang. Zum Aufnahmezeitpunkt lag keine Pneumonie vor. Trotz sofort einsetzender intensivmedizinischer Therapie mit Applikation antibiotischer und antimykotischer Substanzen trat 11 Tage nach stationärer Aufnahme der Exitus letalis ein. Die Obduktion ergab eine vom rechten Mittelohr ausgehende Candida albicans -Mykose mit ausgedehnter eitriger Meningitis, die die unmittelbare Todesursache darstellte. Eine konfluierende Bronchopneumonie, die sich zum Todeszeitpunkt in beiden Lungenunterlappen ausgeprägt hatte, bot keine Zeichen einer Mykose und hat mittelbar zum Todeseintritt beigetragen. [source] Postinfectious gastroparesis related to autonomic failure: a case reportNEUROGASTROENTEROLOGY & MOTILITY, Issue 2 2006A. Lobrano Abstract, Background and aim:, Severe dysautonomia may be secondary to viral infections, resulting in impaired autoimmune, cardiovascular, urinary and digestive dysfunction. Herein, we present a case of a 31-year-old white female patient who had severe gastroparesis related to autonomic failure following an episode of acute gastroenteritis. This seems to be the first report providing thorough assessment of the enteric and autonomic nervous system by analysis of full-thickness small intestinal biopsies, cardiovagal testing and autopsy. Hospital course:, This patient affected by a severe gastroparesis was treated with antiemetics, prokinetics, analgesics and gastric electrical stimulation to control symptoms. Nutritional support was made using jejunal feeding tube and, in the final stage of disease, with total parenteral nutrition. Autonomic studies revealed minimal heart rate variability and a disordered Valsalva manoeuvre although the enteric nervous system and the smooth muscle layer showed a normal appearance. Hospital courses were complicated by episodes of bacteraemia and fungemia. Serum antiphospholipid antibodies were noted but despite anticoagulation, she developed a pulmonary embolism and shortly thereafter the patient died. Autopsy revealed acute haemorrhagic Candida pneumonia with left main pulmonary artery thrombus. Sympathetic chain analysis revealed decreased myelinated axons with vacuolar degeneration and patchy inflammation consistent with Guillain-Barre syndrome. The evaluation of the enteric nervous system in the stomach and small bowel revealed no evidence of enteric neuropathy or myopathy. Conclusion:, A Guillain-Barre-like disease with gastroparesis following acute gastroenteritis is supported by physiological and autonomic studies with histological findings. [source] Solitary subependymal giant cell astrocytoma incidentally found at autopsy in an elderly woman without tuberous sclerosis complexNEUROPATHOLOGY, Issue 2 2009Hidehiro Takei Subependymal giant cell astrocytoma (SEGA) is a benign, slowly growing tumor typically occurring in the setting of tuberous sclerosis complex (TSC). However there are several reported cases in which patients with a solitary SEGA had no other stigmata of TSC. We describe a case of SEGA in a 75-year-old woman representing the oldest patient reported to-date. The patient had a history of radical vulvectomy for malignant melanoma (MM), and died of autopsy-confirmed widespread systemic metastasis. Postmortem examination of the brain revealed a single 2.1 × 1.0 × 0.8 cm intraventricular nodule in the lateral ventricle. Histologically, it was composed of interlacing bundles of spindle-shaped tumor cells with thin delicate processes admixed with relatively large pleomorphic cells with abundant glassy eosinophilic cytoplasm, as seen in a SEGA. Immunohistochemically, GFAP, S-100 protein, and neuron specific enolase were positive, and synaptophysin labeled a few tumor cells. Also noted were rare isolated MM cells within the tumor (i.e., tumor-to-tumor metastasis). Autopsy showed no manifestations of TSC systemically or intracranially. The histopathological differential diagnosis was limited and included giant cell ependymoma and, much less likely, giant cell glioblastoma and pleomorphic xanthoastrocytoma. This case illustrates that SEGA can be found incidentally in an elderly individual with no associated symptoms and also indicates that SEGA can occur outside the setting of TSC. Tumor metastasis to an occult SEGA is extremely rare. [source] An immunohistochemical study on a tetanus fatal case using toxin fragment C (TTC).NEUROPATHOLOGY, Issue 1 2009Should it be a useful diagnostic tool? A 65-year-old man fell in his garden and sustained a right pre-radial cutaneous laceration associated with a Colles' fracture. His status for tetanus immunization was uncertain; so a course of antitetanus treatment was immediately started. Two days after admission the man suddenly developed severe nucal pain, rigidity and dysphagia. A brain CT scan was negative. His condition progressively worsened and then he developed trismus. Cultures from the wound were negative for Clostridium tetani; the CSF analysis was negative. On the 9th day after admission, the man died. A presumptive clinical diagnosis of tetanus was made. Autopsy was performed 24 h after death. An immunohistochemical study was conducted with an antibody directed against tetanus toxin fragment C (TTC). By immunohistochemical evaluation, large motor neurons in the ventral horn were immunopositive for TTC. High power magnification of the ventral horn of spinal cord gray matter samples showed TTC immunoreactivity in motor neuron axons and cell bodies, using a confocal laser scanning microscope. The correct diagnosis could be established on the basis of pathological examination with TTC immunostaining. [source] Severe Venous and Lymphatic Obstruction after Single-Chamber Pacemaker Implantation in a Patient with Chest Radiation TherapyPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 4 2010JOSHUA M. DIAMOND M.D. A 73 - year - old woman with a history of paroxysmal atrial fibrillation, sinus node dysfunction, bilateral breast cancer, and extensive chest radiation developed progressive edema, dyspnea, and recurrent pleural effusions soon after single - chamber pacemaker implantation. Thoracentesis yielded a diagnosis of chylothorax, and progressive refractory anasarca developed. A computed tomography angiogram suggested obstruction of the superior vena cava and left subclavian vein despite outpatient therapeutic anticoagulation. Autopsy confirmed venous thrombosis, along with mediastinal fibrosis. The presumed etiology of the chylothorax and anasarca was obstruction of the atretic central venous structures following pacemaker implantation, critically impairing the already tenuous venous and lymphatic drainage. (PACE 2010; 520,524) [source] Sudden Cardiac Death with Left Main Coronary Artery Occlusion in a Patient Whose Presenting ECG Suggested Brugada SyndromePACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 11 2003TADAYOSHI HATA This article describes a patient who died suddenly during Holter ECG monitoring. A ventricular premature systole with an extremely short coupling interval of 240 ms was immediately followed by torsades de pointes, soon degenerating into ventricular fibrillation. Retrospective survey of the patient's medical records revealed an incomplete right bundle branch block (iRBBB) configuration with fluctuating saddle back-type ST elevation in leads V1 and V2, these suggesting Brugada syndrome. Autopsy showed complete thrombotic occlusion of the left main coronary artery. (PACE 2003; 26:2175,2177) [source] Aggressive progression of breast cancer with microscopic pulmonary emboli possessing a stem cell-like phenotype independent of its originPATHOLOGY INTERNATIONAL, Issue 3 2010Hideya Kawasaki Microscopic pulmonary tumor embolism is difficult to diagnose. Herein is presented the case of a patient who suffered from acute dyspnea and breast cancer on the right side. Two weeks after the breast cancer diagnosis the patient began to experience dyspnea. After 2 weeks of dyspnea, the patient died without an accurate diagnosis of dyspnea. Autopsy indicated massive microscopic pulmonary emboli of the breast cancer. Immunohistochemistry showed that most of the cancer cells in the primary site were negative for estrogen receptors, progesterone receptors Her2/neu oncogene (triple negative), and stem cell-like markers (OCT3/4, NANOG2, CD44, CD24, aldehyde dehydrogenase 1 (ALDH1)). The breast cancer cells in the lung (the metastasized site), however, were triple negative, but were enriched in stem cell-like markers (OCT3/4+, NANOG2+, CD44+/CD24,/low, ALDH1+). This is a significant case report indicating that vascular emboli themselves contain the essential molecular signature of ,stemness' independent of the origin. [source] Pulmonary tumor thrombotic microangiopathy resulting from metastatic signet ring cell carcinoma of the stomachPATHOLOGY INTERNATIONAL, Issue 6 2007Naomi Sakashita Pulmonary tumor thrombotic microangiopathy is an unusual malignancy-related respiratory complication characterized by multiple microthrombi and intimal myofibroblast proliferation. Its clinical manifestation is subacute respiratory failure with pulmonary hypertension. Herein is reported a case of pulmonary tumor thrombotic microangiopathy associated with gastric signet ring cell carcinoma. A 51-year-old woman with gastric cancer died of subacute respiratory failure. Autopsy showed gastric signet ring cell carcinoma with diffuse metastasis of pulmonary lymphatics and pleurae; every organ examined lacked a space-occupying tumor mass. Histologically, proliferated intimal myofibroblasts obliterated most of the pulmonary vascular lumen, and a few stenosed vascular lumina contained cancer cells. In addition, pulmonary vasculature associated with intimal proliferation contained microthrombi. Most cancer cells in the stomach and pulmonary lymphatics were typical signet ring cells, whereas those in vascular lesions were cells of poorly differentiated adenocarcinoma without mucous production. Consistent with a previous report, the latter expressed vascular endothelial growth factor (VEGF) and tissue factor (TF). The proliferated intimal myofibroblasts also expressed type 2A serotonin receptor (5-HT2A). These findings suggest that local expression of VEGF, TF, and 5-HT2A may be linked to the pathogenesis of this unusual pulmonary complication. [source] Familial amyloidotic polyneuropathy (ATTR Val30Met) with widespread cerebral amyloid angiopathy and lethal cerebral hemorrhagePATHOLOGY INTERNATIONAL, Issue 6 2001Naomi Sakashita We report an autopsy case of familial amyloidotic polyneuropathy (FAP) with cerebral hemorrhage. A 38-year-old woman with a typical FAP pedigree started developing severe diarrhea and sensori-motor polyneuropathy at the age of 28 years; autonomic nervous system, heart and renal dysfunction manifested themselves in the following years. Genetic analysis revealed a single amino acid substitution at codon 30 of transthyretin (ATTR Val30Met). Ten years after her initial symptoms, the patient died of a sudden convulsive attack and respiratory failure. Autopsy revealed lethal cerebral hemorrhages and uremic lungs. Histochemical and immunohistochemical analyses revealed TTR-derived amyloid protein in every tissue examined, particularly in glomeruli and peripheral vessels. Severe meningo-cerebrovascular amyloidosis was also detected. Because uremia causes oxidative damage to the vascular system and amyloid formation is closely associated with oxidative stress, it is possible that uremic endothelial damage facilitated an unusual cerebral amyloid deposition. In typical FAP (ATTR Val30Met), cerebral amyloid angiopathy does not usually have clinical manifestations. However, cerebral amyloid angiopathy should be considered to explain FAP symptoms when some risk factors such as uremic vascular damage are accompanying features. [source] Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetusPRENATAL DIAGNOSIS, Issue 5 2002Monika Schlegel Abstract An Erratum has been published for this article in Prenatal Diagnosis 22(11) 2002: 1056. We report a case of maternal isodisomy 10 combined with mosaic partial trisomy 10 (p12.31-q11.1). Chromosome examinations from a CVS sample showed a karyotype 47,XY,+mar/46,XY. The additional marker chromosome which was present in 6/25 interphase nuclei was shown by fluorescence in situ hybridization (FISH) to have been derived from a pericentromeric segment of chromosome 10. DNA analysis was performed from umbilical cord blood from the fetus after termination of the pregnancy at 18 weeks. The results showed that the two structurally normal chromosomes 10 were both of maternal origin, whereas the marker chromosome derived from the father. Autopsy of the fetus revealed hypoplasia of heart, liver, kidneys and suprarenal glands, but, apart from a right bifid ureter, no structural organ abnormalities. This fetus represents the second reported instance of a maternal uniparental disomy (UPD) 10. Copyright © 2002 John Wiley & Sons, Ltd. [source] A phase I clinical trial of interferon-beta gene therapy for high-grade glioma: novel findings from gene expression profiling and autopsyTHE JOURNAL OF GENE MEDICINE, Issue 4 2008Toshihiko Wakabayashi Background High-grade gliomas are highly lethal neoplasms representing approximately 20% of all intracranial tumors. Cationic liposome-mediated interferon-beta (IFN- ,) gene transfer has been found to induce regression of experimental glioma. We have previously performed a pilot clinical trial to evaluate the safety and effectiveness of this IFN- , gene therapy in five patients with high-grade glioma. Two patients showed more than 50% reduction while others had stable disease 10 weeks after treatment initiation. Methods To identify alterations in gene expression in brain tumors 2 weeks after the gene therapy trial, we used a microarray technology and Gene Ontology analysis. The results were validated by patients' clinical course and findings of histology and autopsy. Results and conclusions Using hierarchical clustering and principal component analysis, five series of gene therapy trials were classified according to the response to IFN- , gene therapy. Significant changes in gene expression related to immunoresponse and apoptosis were observed. Moreover, novel patterns of altered gene expression, such as inhibition of neovascularization, were identified, suggesting the involvement of pathways reported previously as not involved. Autopsy and histological examinations revealed dramatic changes in the tumor tissues after therapy in all patients. Many tumor cells showed necrotic changes, and immunohistochemistry identified numerous CD8-positive lymphocytes and macrophages infiltrating the tumor and surrounding tissues; these were probably the effects of therapy. Simultaneously, CD34-immunoreactive vessels were notably decreased in the vector-injected brain. This study facilitates the understanding of the antitumor mechanism and helps identify candidate target molecules for new approaches. However, additional clinical trials are warranted. Copyright © 2008 John Wiley & Sons, Ltd. [source] Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy,ANNALS OF NEUROLOGY, Issue 2 2009Haruhiko Banno MD Objective Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). Animal studies have shown that the pathogenesis of SBMA is dependent on serum testosterone level. This study is aimed at evaluating the efficacy and safety of androgen deprivation by leuprorelin acetate in patients with SBMA. Methods Fifty SBMA patients underwent subcutaneous injections of leuprorelin acetate or placebo in a randomized, placebo-controlled trial for 48 weeks, followed by an open-label trial for an additional 96 weeks, in which 19 patients of the leuprorelin group and 15 of the placebo group received leuprorelin acetate. The patients who did not participate in the open-label trial were also followed up for the 96-week period (UMIN000000474). Results Leuprorelin acetate significantly extended the duration of cricopharyngeal opening in videofluorography and decreased mutant AR accumulation in scrotal skin biopsy. The patients treated with leuprorelin acetate for 144 weeks exhibited significantly greater functional scores and better swallowing parameters than those who received placebo. Autopsy of one patient who received leuprorelin acetate for 118 weeks suggested that androgen deprivation inhibits the nuclear accumulation or stabilization, or both, of mutant AR in the motor neurons of the spinal cord and brainstem. Interpretation These observations suggest that administration of leuprorelin acetate suppresses the deterioration of neuromuscular impairment in SBMA by inhibiting the toxic accumulation of mutant AR. The results of this phase 2 trial support the start of large-scale clinical trials of androgen deprivation for SBMA. Ann Neurol 2009;65:140,150 [source] Bridging necrosis and reticulin bridging fibrosis induced by intrahepatic involvement of acute biphenotypic leukemia,APMIS, Issue 12 2006Case report A 47-year-old Japanese woman was diagnosed as having acute biphenotypic leukemia with association of t(9;22)(q34;q11). Cholestatic liver dysfunction arose, and she died of cachexia and intracranial hemorrhage. Autopsy showed unusual hepatic fibrosis. In the liver, bridging infiltration, bridging necrosis and bridging fibrosis by leukemic cells were seen. It seemed that the degree of fibrosis was associated with the number of aggregates of infiltrating leukemic cells. The fibrotic foci were predominantly composed of reticulin and collagen fibers, and distortion of the lobules was observed. Immunohistochemically, dense bundles of alpha-smooth muscle actin (ASMA)-positive stromal cells, namely activated hepatic stellate cells (HSCs), were observed in the immature fibrotic foci as well as along the sinusoids densely infiltrated by leukemic cells. No cells positive for TGF-,1 or PDGF-BB were identified. In conclusion, extensive intrahepatic involvement by neoplastic cells in adult acute biphenotypic leukemia may cause the unusual "disorganized" hepatic fibrosis. [source] Lethal outcome in xanthogranulomatous endometritis,APMIS, Issue 5 2006Case report Xanthogranulomatous inflammation is rare, mainly involving the kidneys, while primary xanthogranulomatous endometritis (XE) is a very unusual finding, histologically characterized by partial or complete replacement of the mucosa by granulation tissue with an abundance of foamy histiocytes, siderophages and multinucleated giant cells. We present the case of a 69-year-old woman with a short history of abdominal pain and a palpable mass in the pouch of Douglas. Dilatation of the cervix drained a pyometra. Histological examination of the curettage rendered the diagnosis of XE. Microbiological studies revealed enterococcus spp. and Peptostreptococcus magnus. Despite antibiotic treatment the patient died of heart failure due to systemic inflammation. Autopsy confirmed the diagnosis of XE with transmural extension into the peritoneal cavity. Such a lethal course of XE is extraordinary. Proposed causes of XE include obstruction, infection and hemorrhage. Demonstration of enterococcus spp. and P. magnus supports the probable significance of bacteria in the development of XE. Because this condition may mimic malignant disease macroscopically and histologically, knowledge of XE is of major importance for both pathologists and gynecologists. [source] Reclassification of unexplained stillbirths using clinical practice guidelinesAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2009Elizabeth HEADLEY Background: Twenty-eight per cent of stillbirths in Australia remain unexplained. A clinical practice guideline (CPG) produced by the Perinatal Society of Australia and New Zealand (PSANZ) Perinatal Mortality Special Interest Group is in use to assist clinicians in the investigation and audit of perinatal deaths. Aims: To describe in a tertiary hospital using the PSANZ stillbirth investigation guidelines: (i) the distribution and classification of stillbirths, and (ii) the compliance with suggested stillbirth core investigations. Methods: Retrospective cohort of all stillbirths delivered between November 2005 and March 2008. Stillbirths were defined as no sign of life on delivery at , 20 weeks gestation or 400 g birthweight if gestation is unknown. Data were collected via the hospital Perinatal Mortality Audit Committee (PMAC). Cause of death was classified by the PSANZ Perinatal Death Classification. Results: There were 86 stillbirths (rate 7.2 per 1000 births). The percentage of unexplained stillbirths was 34% and 13% before and after CPG investigations, respectively. Unexplained stillbirths had the highest compliance with the recommended investigations. The initial cause of death documented on the death certificate was changed by the PMAC in 19 cases. The investigations most likely to prompt a change in the cause of death classification were autopsy and placental pathology. Conclusions: The percentage of unexplained stillbirths is lower than the national average in a hospital using the Perinatal Mortality Audit Guidelines. However, overall compliance is low, suggesting a targeted approach to investigation is used by clinicians despite a policy that aims to be non-selective. Autopsy and placental examination are the most useful investigations in assisting formal classification of cause of death. [source] Perinatal mortality: clinical value of postmortem magnetic resonance imaging compared with autopsy in routine obstetric practiceBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 4 2003Marianne E. Alderliesten Objective To compare postmortem magnetic resonance imaging (MRI) with autopsy in perinatal deaths. To determine the acceptance and feasibility of postmortem perinatal MRI. Design Cohort study. Setting Large teaching hospital. Population Fetuses and neonates from 16 weeks gestational age until 28 days after birth, stillbirths as well as intrapartum and neonatal deaths. Methods MRI was performed prior to autopsy in a consecutive cohort of perinatal deaths after full parental consent. Agreement between MRI and autopsy was calculated. The consent rate for both examinations was recorded separately, as well as the time between the perinatal death and the MRI. Main outcome measure Full agreement between MRI and autopsy. Results Of 58 cases, 26 parents consented to both examinations (45%). Autopsy showed 18 major malformations, of which 10 were detected with MRI. The positive predictive value of MRI was 80% (4/5) and the negative predictive value was 65% (13/20). Additional consent for MRI was given in eight cases (14%). In 84%, the MRI could be performed within 48 hours. Conclusions MRI is of value if autopsy is refused, but diagnostic accuracy is insufficient to recommend substitution of full autopsy. The acceptance rate of MRI only is better than that of autopsy. [source] Spinal cord injury at birth: a hidden causative factorACTA PAEDIATRICA, Issue 6 2008Jesper Fenger-Gron Abstract A case of perinatally acquired spinal cord injury (SCI) is presented. The foetus was vigorous until birth, the breech presented and delivery was performed by a non-traumatic Caesarean section. The infant displayed symptoms of severe SCI but diagnosis was delayed due to severe co-morbidity. Diagnostic considerations are briefly reviewed. Ventilatory support was withdrawn at the age of 20 days when the infant had still not exhibited any respiratory effort or spontaneous movements. Autopsy revealed a serious congenital malalignment of the upper cervical vertebrae and at the histological examination extensive reactive changes were observed in the same area. To our knowledge such findings have not been published previously. Conclusion: In cases of serious perinatally acquired SCI, claim of malpractice is often apparent. In this case a hidden congenital malformation of the cervical vertebrae was revealed, highlighting the need of careful postmortem examinations in such cases. [source] | ||||||||||||||||||||||||||||||||||||||||