OBJECTIVES: To evaluate amended report rates relative to surveillance methods and to identify surveillance methods or other practice parameters that lower amended report rates. DESIGN: Participants in the 1996 Q-Probes quality improvement program of the College of American Pathologists were asked to prospectively document amended surgical pathology reports for a period of 5 months or until 50 amended reports were recorded. The methods of error detection were also recorded and laboratory and institutional policies surveyed. Four types of amended reports were investigated: those issued to correct patient identification errors, to revise originally issued final diagnoses, to revise preliminary written diagnoses, and to revise other reported diagnostic information that was significant with respect to patient management or prognosis. PARTICIPANTS: Three hundred fifty-nine laboratories, 96% from the United States. RESULTS: A total of 3147 amended reports in all four categories from a survey of 1,667,547 surgical pathology specimens accessioned during the study period were issued by the participants. The aggregate mean rate of amended reports was 1.9 per 1000 cases (median, 1.5 per 1000 cases). Of these, 19.2% were issued to correct patient identification errors, 38.7% to change the originally issued final diagnosis, 15.6% to change a preliminary written diagnosis, and 26.5% to change clinically significant information other than the diagnosis. Most frequently, a request from a clinician to review a case (20.5%) precipitated the error detection. Although not statistically significant, a higher amended report rate (1.6 per 1000) for all error types was associated with routine diagnostic slide review that was performed after completion of the surgical pathology report. This is compared to rates for institutions that had routine diagnostic slide review of cases prior to finalization of pathology reports (1.2 per 1000) and institutions that had no routine diagnostic slide review (1.4 per 100). Slide review of cases prior to completion of reports lowered the rate of amended reports issued for two types of amended reports: those in which the originally issued final diagnosis was changed and those in which information other than the diagnosis was changed for patient management or prognostic significance. Other laboratory practice variables examined were not found to be associated with the amended report rate. CONCLUSIONS: There is an association between lower amended report rates and diagnostic slide review of cases prior to completion of the pathology report. The level of case review and type of case mix that is necessary for optimal quality assurance needs further investigation.
Molecular pathology has identified 2 distinct forms of neuronal inclusion body in Amyotrophic Lateral Sclerosis (ALS). ALS-type inclusions are skeins or small dense filamentous aggregates which can only be demonstrated by ubiquitin immunocytochemistry (ICC). In contrast hyaline conglomerates (HC) are large multifocal accumulations of neurofilaments. Previous reports have failed to clarify the distinction and relationship between these inclusions. Correlation of molecular pathology with sporadic and familial cases of ALS will detect specific associations between molecular lesions and defined genetic abnormalities; and determine the relevance of molecular events in familial cases to the pathogenesis of sporadic disease. We describe the molecular pathology of 5 ALS cases linked to abnormalities of the SOD1 gene, in comparison with a series of 73 sporadic cases in which SOD1-gene abnormalities were excluded. Hyaline conglomerate inclusions were detected only in the 2 cases with the SOD1 I113T mutation and showed a widespread multisystem distribution. In contrast ALS-type inclusions characterized sporadic cases (70/73) and were restricted to lower motor neurons. Hyaline conglomerates were not seen in sproadic cases. Confocal microscopic analysis and ICC shows that HC contain equally abundant phosphorylated and nonphosphorylated neurofilament epitopes, indicating that phosphorylation is not essential for their formation. In contrast neurofilament immunoreactivity is virtually absent from typical ALS-type inclusions. The SOD1-related cases all had marked corticospinal tract and dorsal column myelin loss. In 4 cases the motor cortex was normal or only minimally affected. This further illustrates the extent to which upper motor neuron damage in ALS is usually a distal axonopathy. Previously reported pathological accounts of SOD1-related familial ALS (FALS) are reviewed. Hyaline conglomerates are so far described in cases with mutations A4V, I113T and H48Q. In only 1 of 12 cases (H48Q) reported were both HC and ALS-type inclusions present in the same case. These findings suggest the possibility that the molecular pathology of neuronal inclusions in ALS indicates 2 distinct pathogenetic cascades.
OBJECTIVE: Our study aimed to construct and evaluate functions called "classifiers", produced by supervised machine learning techniques, in order to categorize automatically pathology reports using solely their content. METHODS: Patients from the Poitou-Charentes Cancer Registry having at least one pathology report and a single non-metastatic invasive neoplasm were included. A descriptor weighting function accounting for the distribution of terms among targeted classes was developed and compared to classic methods based on inverse document frequencies. The classification was performed with support vector machine (SVM) and Naive Bayes classifiers. Two levels of granularity were tested for both the topographical and the morphological axes of the ICD-O3 code. The ability to correctly attribute a precise ICD-O3 code and the ability to attribute the broad category defined by the International Agency for Research on Cancer (IARC) for the multiple primary cancer registration rules were evaluated using F1-measures. RESULTS: 5121 pathology reports produced by 35 pathologists were selected. The best performance was achieved by our class-weighted descriptor, associated with a SVM classifier. Using this method, the pathology reports were properly classified in the IARC categories with F1-measures of 0.967 for both topography and morphology. The ICD-O3 code attribution had lower performance with a 0.715 F1-measure for topography and 0.854 for morphology. CONCLUSION: These results suggest that free-text pathology reports could be useful as a data source for automated systems in order to identify and notify new cases of cancer. Future work is needed to evaluate the improvement in performance obtained from the use of natural language processing, including the case of multiple tumor description and possible incorporation of other medical documents such as surgical reports.
Article1 May 1956FATAL AMEBIASIS: REPORT OF 148 FATAL CASES FROM THE ARMED FORCES INSTITUTES OF PATHOLOGYB. H. KEAN, M.D., HUGH R. GILMORE JR., WILLIAM W. VAN STONE, M.D.B. H. KEAN, M.D.Search for more papers by this author, HUGH R. GILMORE JR.Search for more papers by this author, WILLIAM W. VAN STONE, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-44-5-831 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptINTRODUCTIONMost authorities agree that the prevalence of amebiasis in the general population is approximately 10%,1and that the number of patients who develop fatal complications could be substantially reduced if there were greater awareness by the medical profession of the seriousness of the disease. The return of millions of servicemen from all parts of the world, some with subclinical amebic infection, has made this group of particular interest not only to the Armed Forces2but also to civilian physicians throughout the country.3, 4, 5It was thought valuable, therefore, to assemble the clinical and pathologic data on fatal cases...Bibliography1. AndersonBostickJohnstone HHWLHG: Amebiasis, pathology, diagnosis and chemotherapy, 1953, Charles C Thomas, Springfield, Ill. Google Scholar2. Radke RA: The military significance of amebiasis, Mil. Surgeon 112: 18-31 (Jan.) 1953. MedlineGoogle Scholar3. MackieSonnenberg TTB: Tropical disease problems among veterans of World War II, Am. J. Trop. Med. 29: 443-451 (July) 1949. CrossrefMedlineGoogle Scholar4. LincicomeThiedeCarpenter DRWHE: Amebiasis panel: An evaluation of the influence of World War II on the incidence of amebiasis, Am. J. Trop. Med. 30: 171-179 (Mar.) 1950. CrossrefMedlineGoogle Scholar5. 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Martin JimenezSaenz RJC: Abesco hepatico amebiano en un lactante de dos meses de edad, Médica, Matanzas 6: 85-100 (July-Aug.) 1947. Google Scholar12. De Silva CC: Amoebiasis in infancy, Brit. M. J. 2: 1208-1210 (Nov. 26) 1949. CrossrefMedlineGoogle Scholar13. OchsnerDeBakey AM: Amebic hepatitis and hepatic abscess, an analysis of 181 cases with review of the literature, Surgery 13: 460-493, 612-649 (Mar., Apr.) 1943. Google Scholar14. Elsden-Dew R: Some aspects of amebiasis in Africans, South African M. J. 20: 580 (Oct. 12); 620 (Oct. 26) 1946. Google Scholar15. Donoso InfanteAmenabar CastroZacariasRojas AEGAG: Consideraciones anatomoclinicas sobre las causes de muerte en la amebiasis, Rev. méd. de Chile 80: 413-417 (July) 1952. MedlineGoogle Scholar16. Epidemic amebic dysentery: the Chicago outbreak of 1933, National Institute of Health Bull. 166, Washington, D. C., Government Printing Office, 1936. Google Scholar17. DeBakeyOchsner MA: Surgical treatment of amebiasis, Wisconsin M. J. 48: 243-254 (Mar.) 1949. MedlineGoogle Scholar18. RinehartAnderson JFHH: The effect of emetine on cardiac muscle, Arch. Path. 11: 546-553 (Apr.) 1931. Google Scholar19. CottrellHayward JDCW: The effects of emetine on the heart, Brit. Heart J. 7: 168-170, 1945. CrossrefGoogle Scholar20. GoodmanGilman TA: The pharmacological basis of therapeutics, 1941, The Macmillan Company, New York, p. 932. Google Scholar21. CarterDorones MGSG: Amebic pericarditis, review of literature and report of a case, New England J. Med. 242: 390-394 (Mar. 16) 1950. CrossrefGoogle Scholar22. Clark HC: Distribution and complications of amebic lesions found in 186 post-mortem examinations, Am. J. Trop. Med. 5: 157-171 (Mar.) 1925. CrossrefGoogle Scholar23. Craig CF: Etiology, diagnosis and treatment of amebiasis, 1944, The Williams and Wilkins Co., Baltimore, p. 151. Google Scholar24. SullivanBailey BHFN: Amebic lung abscess, Dis. of Chest 20: 84-96 (July) 1951. CrossrefMedlineGoogle Scholar25. AndersonBostickJohnstone HHWLHG: Amebiasis, pathology, diagnosis and chemotherapy, 1953, Charles C Thomas, Springfield, Ill., p. 137. Google Scholar26. CopherDick CHBM: Streamline phenomena in the portal vein and selective distribution of portal blood in the liver, Arch. Surg. 17: 409-419 (Sept.) 1928. CrossrefGoogle Scholar27. CarreraSadun GMEH: Hepatomegaly in human and experimental amebic colitis, Am. J. Trop. Med. 1: 962-965 (Nov.) 1952. CrossrefMedlineGoogle Scholar28. Ouary G: A propos des hepatites amebiennes; les absces du foie (amebic hepatitis and liver abscess), Méd. trop. 9: 450-457 (May-June) 1949. Google Scholar29. Kean BH: Amebic hepatitis: Absence of diffuse lesions at autopsy and in biopsies, Arch. Int. Med. 96: 667-673 (Nov.) 1955. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: *Received for publication October 3, 1955.From the Departments of Medicine and Public Health and Preventive Medicine, Cornell University Medical College, New York, N. Y.†Curator, Medical Museum, Armed Forces Institutes of Pathology, Washington, D. C. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byAn atypical EhGEF regulates phagocytosis in Entamoeba histolytica through EhRho1CLINICAL ANALYSIS OF AMOEBIC LIVER ABSCESSAcute fulminant necrotizing amoebic colitis: a rare and fatal complication of amoebiasis: a case reportAMEBIASISPathogenesis of Acute Experimental Liver AmebiasisThe surgical management of amoebiasis in childrenAmoebic perforation of the intestine in childrenAmoebic perforation of the bowel: Experiences with 26 casesPleuropulmonary AmebiasisHuman intestinal epithelial cells produce proinflammatory cytokines in response to infection in a SCID mouse-human intestinal xenograft model of amebiasisAmoebiasis: a rare cause of cardiac tamponade.FULMINANT AMOEBIC COLITIS CAUSING A COLONIC MUCOSAL TUBEBacterial, Fungal, Parasitic, and Viral ColitisAppendiceal infection byEntamoeba histolytica andStrongyloides stercoralis presenting like acute appendicitisAmebic colitisAcute fulminating amoebic colitis: survival after total colectomy.Amoebic Perforation of the Bowel: Diagnosis and ManagementToxic dilatation in amebic colitis: Successful treatment without colectomyAmebiasisManagement of thoracic amebiasisPitfalls in the Surgical Management of Amoebic Liver AbscessFatal intestinal amoebiasis.Perforation of the colon in unsuspected amebic colitisAmoebic liver abscess in Rhodesian AfricansMultiple cerebral abscesses complicating hepatopulmonary amebiasisAmebiasis presenting as an acute abdomenA clinical comparison of amebic and pyogenic abscess of the liver in sixty-six patientsAmoebiasisPathology of human amebiasisNecrotizing Colitis Associated with Rheumatoid ArthritisRapid diagnostic approach to amebic liver abscessRectal BiopsyA case of amoebiasis in early infancyResolution Time of an Amebic Liver AbscessThe Epidemiology of AmoebiasisRuptured Amoebic Liver Abscess Leading to Inferior Vena Cava ObstructionMassive necrosis of the colon due to amoebiasis.Amebic perforation of the colonPrognosis in peritonitis complicating severe amoebic dysenteryA CASE OF FULMINATING AMOEBIASISTHE LIVER IN ULCERATIVE DISEASE OF THE INTESTINAL TRACT: FUNCTIONAL AND ANATOMIC CHANGES*ARNOLD S. MONTO, M.D.Hepatic amoebiasisSPORADIC AMOEBIASIS IN VICTORIA 1 May 1956Volume 44, Issue 5Page: 831-843KeywordsAmebiasisArmed forcesColonHepatitisLesionsPancreasPeritonitisPrevention, policy, and public healthPreventive medicine ePublished: 1 December 2008 Issue Published: 1 May 1956 Copyright & PermissionsCopyright ©, 1956, by The American College of PhysiciansPDF downloadLoading ...
We review 111 cases of rhabdoid tumor of kidney (RTK), including 79 entered on the National Wilms' Tumor Study (NWTS). Median age at diagnosis was 11 months, with a range from 0 to 106 months. The male:female ratio was 1.5:1. Gross features included a characteristic involvement of perihilar renal parenchyma. A wide histological spectrum was encountered, including nine major morphological patterns (classical, epithelioid, sclerosing, lymphomatoid, histiocytoid, etc.). These appearances invite confusion with other renal neoplasms. Ultrastructural studies were performed in 20 cases; immunocytochemical studies were performed in 11. Vimentin was demonstrated in all tumors; epithelial membrane antigen was seen in 7. Nonspecific decoration of cytoplasmic inclusions by a variety of immunostains was found in several cases. Several findings suggested that RTK might arise from primitive cells involved in formation of the renal medulla. There was no evidence of a histogenetic relationship to Wilms' tumor, although RTK may overlap with mesoblastic nephroma and clear cell sarcoma. Of the 70 NWTS patients with adequate follow-up, 56 (80%) have died. Every patient presenting with distant metastases died, whereas 10 of 20 with negative nodes survived. Survival rates were higher for girls (56.3% versus 11.1%). None of the histological variables had independent prognostic significance.
Primary malignant schwannoma of the small and large intestine is an extremely rare disease. Therefore, we are going to report an aggressive multifocal malignant intestinal schwannoma in a 66-year old female patient, that was primarily diagnosed as the gynecological tumor that, even after the surgical treatment, had a very quickly recurrence. Small intestine tumors may show images similar to an adnexal tumor, so it is difficult to differentiate one from another prior to the surgery. The patient did not suffer from neurofibromatosis type 1 (NF-1), disease that increases occurrence of malignant schwannoma in comparison with general population. These tumors are often diagnosed late, and radical surgical intervention does not guarantee longer survival. After surgical removal of macroscopically visible tumor masses from this patient, tumor formation within one month after the operation had reached the sizes of 83x66 mm and 85x75 mm respectively, with the occurrence of metastases in the liver, and thereafter the patient died. In differential diagnosis of adnexal tumor small intestine tumor has to be considered, especially if nonspecific symptoms are present.
In a 69 year-old female patient who had been a pet bird enthusiast, cryptococcosis of the central nervous system was surprisingly established as cause of death at postmortem. Clinically, a diagnosis of cirrhosis of the liver associated with atypical coma hepaticum had been suspected. Apart from damage due to alcohol abuse, no other underlying disease could be found. The fecal matter of a budgerigar (Melopsittacus undulatus) has been suggested as the probable source of infection. Using Guizotia abyssinica creatinine agar, Cryptococcus neoformans could be isolated from dry fecal matter collected from the bird cage. In a pet shop in the neighbourhood of the patient's home, fecal matter from various pet bird species was collected. Using the same method, examination also revealed the presence of Cr. neoformans. Contrastingly, masses of pigeon manure found in the garret of the patient's house did not contain Cr. neoformans. The epidemiological significance of the fecal matter of pet birds as a habitat for Cr. neoformans is discussed.
A case of right lower quadrant pain in a 53-year-old postmenopausal female who underwent appendectomy 21 years previously is presented. Recurrent appendicitis with rupture was noted in the appendiceal stump on exploratory celiotomy after diagnosis by computed tomography scan. Although rare, pathology of the appendiceal stump, whether inverted or not, is a real entity that can be encountered on laparotomy. Malignancy and hemorrhage can also occur in the appendiceal remnant, but the large number of disorders that can cause acute right lower quadrant abdominal pain makes appendiceal stump pathology extremely difficult to detect preoperatively. Because of the extensive differential diagnosis, timely operative intervention for clinical peritonitis in this region should not be delayed.
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BACKGROUND: Increased workload, case complexity, financial constraints, and staffing shortages justify wider implementations of digital pathology. One of its main advantages is distance reporting. AIM: A feasibility study was conducted at our institution in order to achieve comprehensive pathology services available by distance. METHODS: One senior pathologist reported 950 cases (3,650 slides) by distance during 19 weeks. Slides were scanned by ScanScope AT Turbo (Aperio) and digital images accessed through SymPathy (Tieto) on a 14" laptop. Mobile phone, mobile broadband, broadband over Wi-Fi and broadband were used for internet connections along with a virtual private network technology (VPN). Lync (Microsoft) was tested for one case consultation and resident's teaching session. Larger displays were accessed when available. Effects of ergonomics and working flexibility on the user experience were observed. Details on network speed, frequency of technical issues, data usage, scanning, and turnaround, were collected and evaluated. Turnaround was compared to in-office microscopic reporting, measured from the registration to sign off. RESULTS: Network speeds varied 1-80 Mbps (median download speed 8-65 Mbps). 20 Mbps were satisfactory for the instant upload of digital images. VPN, image viewer, and laptop failed on two occasions each. An estimated data usage per digital image was 10 MB (1-50 MB). Two cases (15 slides) were deferred to microscopic slides (0.21/0.41%) due to scanty material and suboptimal slide quality. Additional nine cases (15 slides) needed to be rescanned for various reasons (0.95/0.41%). Average turnaround was shorter, and the percentage of cases reported up to 3 days higher (3.13 days/72.25%) comparing with in-office microscopic reporting (3.90 days/40.56%). Larger displays improved the most user experience at magnifications over ×20. CONCLUSIONS: Existing IT solutions at our institution allow efficient and reliable distance reporting for the core pathology services in histology and cytology. Stable network speeds, fully integrated laboratory information management system, technical reliability, working flexibility, larger displays, and shorter turnaround contributed to the overall satisfaction with distance reporting. A further expansion of our pathology services available by distance, diagnostic and educational, rely on gaining experience in digital reporting and marginal IT investment. Adjustments to the organization of pathology services may follow to fully benefit from the implementation of digital pathology.
In order to investigate the clinical pathology of severe acute respiratory syndrome (SARS), the autopsies of three patients who died from SARS in Nan Fang Hospital Guangdong, China were studied retrospectively. Routine haematoxylin and eosin (H&E) staining was used to study all of the tissues from the three cases. The lung tissue specimens were studied further with Macchiavello staining, viral inclusion body staining, reticulin staining, PAS staining, immunohistochemistry, ultrathin sectioning and staining, light microscopy, and transmission electron microscopy. The first symptom was hyperpyrexia in all three cases, followed by progressive dyspnoea and lung field shadowing. The pulmonary lesions included bilateral extensive consolidation, localized haemorrhage and necrosis, desquamative pulmonary alveolitis and bronchitis, proliferation and desquamation of alveolar epithelial cells, exudation of protein and monocytes, lymphocytes and plasma cells in alveoli, hyaline membrane formation, and viral inclusion bodies in alveolar epithelial cells. There was also massive necrosis of splenic lymphoid tissue and localized necrosis in lymph nodes. Systemic vasculitis included oedema, localized fibrinoid necrosis, and infiltration of monocytes, lymphocytes, and plasma cells into vessel walls in the heart, lung, liver, kidney, adrenal gland, and the stroma of striated muscles. Thrombosis was present in small veins. Systemic toxic changes included degeneration and necrosis of the parenchyma cells in the lung, liver, kidney, heart, and adrenal gland. Electron microscopy demonstrated clusters of viral particles, consistent with coronavirus, in lung tissue. SARS is a systemic disease that injures many organs. The lungs, immune organs, and systemic small vessels are the main targets of virus attack, so that extensive consolidation of the lung, diffuse alveolar damage with hyaline membrane formation, respiratory distress, and decreased immune function are the main causes of death.
INTRODUCTION: Acute kidney injury (AKI) is a complex disorder for which currently there is no accepted definition. Having a uniform standard for diagnosing and classifying AKI would enhance our ability to manage these patients. Future clinical and translational research in AKI will require collaborative networks of investigators drawn from various disciplines, dissemination of information via multidisciplinary joint conferences and publications, and improved translation of knowledge from pre-clinical research. We describe an initiative to develop uniform standards for defining and classifying AKI and to establish a forum for multidisciplinary interaction to improve care for patients with or at risk for AKI. METHODS: Members representing key societies in critical care and nephrology along with additional experts in adult and pediatric AKI participated in a two day conference in Amsterdam, The Netherlands, in September 2005 and were assigned to one of three workgroups. Each group's discussions formed the basis for draft recommendations that were later refined and improved during discussion with the larger group. Dissenting opinions were also noted. The final draft recommendations were circulated to all participants and subsequently agreed upon as the consensus recommendations for this report. Participating societies endorsed the recommendations and agreed to help disseminate the results. RESULTS: The term AKI is proposed to represent the entire spectrum of acute renal failure. Diagnostic criteria for AKI are proposed based on acute alterations in serum creatinine or urine output. A staging system for AKI which reflects quantitative changes in serum creatinine and urine output has been developed. CONCLUSION: We describe the formation of a multidisciplinary collaborative network focused on AKI. We have proposed uniform standards for diagnosing and classifying AKI which will need to be validated in future studies. The Acute Kidney Injury Network offers a mechanism for proceeding with efforts to improve patient outcomes.
SUMMARY The authors repbrt a follow‐up study of two boys who presented with autistic regression (after normal early development) at 13 and 22 months. Both were found on cerebral imaging to have tuberous sclerosis, with lesions involving the limbic system, bilaterally in the second child. The first child's regression coincided with the onset of partial complex seizures; disappearance of the autistic behaviour and marked improvement in cognitive development occurred with remission of the epilepsy. The second child, who had probable seizures and a late‐appearing epileptic focus on EEG, remained severely disabled. The autistic behaviour appears to be linked to pathology in the limbic system and a direct role of epilepsy in the regression is proposed. RÉSUMÉ Régression autistique de I'enfance: relation avec la pathologie limbique el I‘épilepsie Les auteurs rapportent une étude longitudinale de deux garçons ayant présenté une régression autistique (après un développement précoce normal) respectivement à 13 et 22 mois. Dans les deuxcas, furent trouvée a I'exploration imagière du cerveau, une sclérose tubéreuse avec des lésions atteignant le système limbique, bilatéralement dans le second cas. Chez le premier enfant, la régression coïncida avec le début de crises partielles complexes; une disparition du comportement autistique et une amelioration marquée du développement cognitif furent observées avec la rémission de I‘épilepsie. Le second enfant, qui faisait probablement des crises et avait un foyer épileptique d'apparition tardive á I'EEG, demeura gravemect atteint. Le comportement autistique apparait liéá une pathologie du systéme limbique et un rǒle direct de I‘épilepsie pour expliquer la régression est proposé. ZUSAMMENFASSUNG Autislische Regression bei Kindern: Relation zu pathologischen Veränderungen im limbischen System und zu Epilepsie Die Autoren berichten über die Verlaufsstudie an zwei Jungen, die eine autistische Regression (nach einer anfänglich normalen Entwicklung) mit 13 bzw 22 Monaten bekamen. Mit cerebralen bildgebenden Verfahren wurde bei beiden Kindern eine tuberóse Hirnsklerose mit Lásionen im limbischen System, bei dem zweiten Kind beidseitig, festgestellt. Bei dem ersten Kind trat die Regression mit dem Beginn komplexer Partialanfälle auf; mit der Remission der Epilepsie verschwand das autistische Verhalten und es wurde eine deutliche Besserung der kognitiven Entwicklung beobachtet. Des zweite Kind, das vermutlich Anfälle und einen spät auftretenden Krampffokus im EEG hatte, blieb schwer behindert. Das autistische Verhalten scheint an pathologische Veränderungen im limbischen System gebunden zu sein und man vermutet einen direkten Zusammenhang zwischen Epilepsie und Regression. RESUMEN Regresión autisrica en ninCos: relación con el sislerna limbico y la epilepsia Los autores aportan el resultado del curso de un estudio de dos muchachos con regresión autistica (tras un desarrollo normal) a los 13 y 22 meses respectivamente. En ambos se hallaron imágenes de esclerosis tuberosa con lesiones que afectaban el sistema limbico, de forma bilateral en el segundo ninCo. En el primero la regresión coincidió con el inicio de convulsiones parciales complejas. Se observó la desaparición del comportamiento autistico y una marcada mejoria en el desarrollo cognitivo al remitir la epilepsia. El segundo ninco que probablemente padecia ataques y posteriormente un foco epiléptico en el EEG, continuó gravemente minusválido. Parece que el comportamiento autistico va unido a una patologia del sistema limbico y se propone un papel directo de la epilepsia en la regresión.
INTRODUCTION: Case reports have been a long held tradition within the surgical literature. Reporting guidelines can improve transparency and reporting quality. However, recent consensus-based guidelines for case reports (CARE) are not surgically focused. Our objective was to develop surgical case report guidelines. METHODS: The CARE statement was used as the basis for a Delphi consensus. The Delphi questionnaire was administered via Google Forms and conducted using standard Delphi methodology. A multidisciplinary group of surgeons and others with expertise in the reporting of case reports were invited to participate. In round one, participants stated how each item of the CARE statement should be changed and what additional items were needed. Revised and additional items from round one were put forward into a further round, where participants voted on the extent of their agreement with each item, using a nine-point Likert scale, as proposed by the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) working group. RESULTS: In round one, there was a 64% (38/59) response rate. Following adjustment of the guideline with the incorporation of recommended changes, round two commenced and there was an 83% (49/59) response rate. All but one of the items were approved by the participants, with Likert scores 7-9 awarded by >70% of respondents. The final guideline consists of a 14-item checklist. CONCLUSION: We present the SCARE Guideline, consisting of a 14-item checklist that will improve the reporting quality of surgical case reports.
Radical-mediated damage to proteins may be initiated by electron leakage, metal-ion-dependent reactions and autoxidation of lipids and sugars. The consequent protein oxidation is O2-dependent, and involves several propagating radicals, notably alkoxyl radicals. Its products include several categories of reactive species, and a range of stable products whose chemistry is currently being elucidated. Among the reactive products, protein hydroperoxides can generate further radical fluxes on reaction with transition-metal ions; protein-bound reductants (notably dopa) can reduce transition-metal ions and thereby facilitate their reaction with hydroperoxides; and aldehydes may participate in Schiff-base formation and other reactions. Cells can detoxify some of the reactive species, e.g. by reducing protein hydroperoxides to unreactive hydroxides. Oxidized proteins are often functionally inactive and their unfolding is associated with enhanced susceptibility to proteinases. Thus cells can generally remove oxidized proteins by proteolysis. However, certain oxidized proteins are poorly handled by cells, and together with possible alterations in the rate of production of oxidized proteins, this may contribute to the observed accumulation and damaging actions of oxidized proteins during aging and in pathologies such as diabetes, atherosclerosis and neurodegenerative diseases. Protein oxidation may also sometimes play controlling roles in cellular remodelling and cell growth. Proteins are also key targets in defensive cytolysis and in inflammatory self-damage. The possibility of selective protection against protein oxidation (antioxidation) is raised.
The global burden of cancer continues to increase largely because of the aging and growth of the world population alongside an increasing adoption of cancer-causing behaviors, particularly smoking, in economically developing countries. Based on the GLOBOCAN 2008 estimates, about 12.7 million cancer cases and 7.6 million cancer deaths are estimated to have occurred in 2008; of these, 56% of the cases and 64% of the deaths occurred in the economically developing world. Breast cancer is the most frequently diagnosed cancer and the leading cause of cancer death among females, accounting for 23% of the total cancer cases and 14% of the cancer deaths. Lung cancer is the leading cancer site in males, comprising 17% of the total new cancer cases and 23% of the total cancer deaths. Breast cancer is now also the leading cause of cancer death among females in economically developing countries, a shift from the previous decade during which the most common cause of cancer death was cervical cancer. Further, the mortality burden for lung cancer among females in developing countries is as high as the burden for cervical cancer, with each accounting for 11% of the total female cancer deaths. Although overall cancer incidence rates in the developing world are half those seen in the developed world in both sexes, the overall cancer mortality rates are generally similar. Cancer survival tends to be poorer in developing countries, most likely because of a combination of a late stage at diagnosis and limited access to timely and standard treatment. A substantial proportion of the worldwide burden of cancer could be prevented through the application of existing cancer control knowledge and by implementing programs for tobacco control, vaccination (for liver and cervical cancers), and early detection and treatment, as well as public health campaigns promoting physical activity and a healthier dietary intake. Clinicians, public health professionals, and policy makers can play an active role in accelerating the application of such interventions globally.
The keratins are the typical intermediate filament proteins of epithelia, showing an outstanding degree of molecular diversity. Heteropolymeric filaments are formed by pairing of type I and type II molecules. In humans 54 functional keratin genes exist. They are expressed in highly specific patterns related to the epithelial type and stage of cellular differentiation. About half of all keratins--including numerous keratins characterized only recently--are restricted to the various compartments of hair follicles. As part of the epithelial cytoskeleton, keratins are important for the mechanical stability and integrity of epithelial cells and tissues. Moreover, some keratins also have regulatory functions and are involved in intracellular signaling pathways, e.g. protection from stress, wound healing, and apoptosis. Applying the new consensus nomenclature, this article summarizes, for all human keratins, their cell type and tissue distribution and their functional significance in relation to transgenic mouse models and human hereditary keratin diseases. Furthermore, since keratins also exhibit characteristic expression patterns in human tumors, several of them (notably K5, K7, K8/K18, K19, and K20) have great importance in immunohistochemical tumor diagnosis of carcinomas, in particular of unclear metastases and in precise classification and subtyping. Future research might open further fields of clinical application for this remarkable protein family.
BACKGROUND: Colorectal adenocarcinoma (CRC) is the third leading cause of death in the United States. One of the histologic subtypes of CRC is signet-ring cell carcinoma (SRCC), which has a distinct molecular and tumor biology from that of adenocarcinoma. Primary SRCC diagnosed at an early stage is very rare as most cases are detected at an advanced stage. Therefore, overall prognosis of SRCC is poor. CASE PRESENTATION: A 36-year-old female presented to her primary care physician with new-onset progressive right lower quadrant pain without any significant past medical or family history. Computed tomography scan of the abdomen and pelvis with contrast showed a 4.9 × 3.5 × 3.1 cm, lobulated, septated cystic mass arising from the cecum. The mass demonstrated wall enhancement and contained focal areas of coarse calcification. There was nodal involvement either locally or distally. The patient underwent right hemicolectomy, and pathology revealed a high-grade mucinous carcinoma with signet-ring cell variant invading through the muscularis propria and into the subserosal adipose tissue. The margins were negative for tumor, and no lymphovascular or perineural invasion was noted. None of the 14 resected pericolonic lymph nodes was positive for malignancy. Hence, she was staged as pT3, pN0, pMx-stage IIA. The appendix was not involved. Microsatellite instability testing showed the preservation of MLH1, PMS2, MSH2 and MSH6 proteins by IHC and PCR. Carcinoembryonic antigen level was within normal limits. Due to the patient's young age, aggressive histology and microsatellite-stable status, adjuvant fluropyrimidine (5-FU)-based therapy with the single agent capecitabine was initiated. The patient completed 6 months of adjuvant therapy and has been disease free for approximately 18 months. CONCLUSION: Primary SRCC of the cecum is a rare disease. Given the poor prognosis of these patients, early-stage disease with microsatellite-stable patients should be considered for adjuvant 5-FU-based therapy in an attempt to prevent recurrence.
BACKGROUND: Acquired thymic disease (malignant thymoma or thymic hyperplasia) is associated with various autoimmune diseases, such as myasthenia gravis (MG), pure red-cell aplasia (PRCA), pemphigus vulgaris or systemic lupus erythematosus (SLE). Renal disease has rarely been observed in association with thymoma. METHODS: This retrospective, multicentric study collected data on patients with thymic disease and biopsy-proven renal involvement. RESULTS: Twenty-one patients were studied (age: 49+/-14 years; male/female ratio: 8/13). Thymic pathology revealed mostly high-grade malignant thymoma (B2 and AB type); two cases were associated with non-malignant thymic hyperplasia. MG was found in nine out of 21 cases, SLE in three, PRCA in three and pemphigus in two. In 47% of these cases, nephropathy occurred after curative treatment of thymoma (108+/-83 months; range: 8-180 months), mainly based on surgical thymectomy associated with radiotherapy. Clinical and laboratory findings included nephrotic syndrome (75%), renal failure (50%), frequent presence of antinuclear antibodies and hypogammaglobulinaemia. Renal pathology showed minimal change disease in 14 patients and focal segmental glomerulosclerosis (FSGS) in one. Membranous nephropathy was observed in four cases, ANCA-associated glomerulonephritis in two and thrombotic microangiopathy in one. Most patients with minimal change disease or FSGS (11/13) were steroid-sensitive. Despite good response to steroids, 38% of patients died from thymoma and 17% developed end-stage renal failure. CONCLUSIONS: Glomerulopathy can be associated with thymoma or thymic hyperplasia. The present series shows that minimal change disease is the most frequent thymoma-associated glomerular lesion and that it may occur several years after thymectomy.
IMPORTANCE: Cerebral amyloid-β aggregation is an early pathological event in Alzheimer disease (AD), starting decades before dementia onset. Estimates of the prevalence of amyloid pathology in persons without dementia are needed to understand the development of AD and to design prevention studies. OBJECTIVE: To use individual participant data meta-analysis to estimate the prevalence of amyloid pathology as measured with biomarkers in participants with normal cognition, subjective cognitive impairment (SCI), or mild cognitive impairment (MCI). DATA SOURCES: Relevant biomarker studies identified by searching studies published before April 2015 using the MEDLINE and Web of Science databases and through personal communication with investigators. STUDY SELECTION: Studies were included if they provided individual participant data for participants without dementia and used an a priori defined cutoff for amyloid positivity. DATA EXTRACTION AND SYNTHESIS: Individual records were provided for 2914 participants with normal cognition, 697 with SCI, and 3972 with MCI aged 18 to 100 years from 55 studies. MAIN OUTCOMES AND MEASURES: Prevalence of amyloid pathology on positron emission tomography or in cerebrospinal fluid according to AD risk factors (age, apolipoprotein E [APOE] genotype, sex, and education) estimated by generalized estimating equations. RESULTS: The prevalence of amyloid pathology increased from age 50 to 90 years from 10% (95% CI, 8%-13%) to 44% (95% CI, 37%-51%) among participants with normal cognition; from 12% (95% CI, 8%-18%) to 43% (95% CI, 32%-55%) among patients with SCI; and from 27% (95% CI, 23%-32%) to 71% (95% CI, 66%-76%) among patients with MCI. APOE-ε4 carriers had 2 to 3 times higher prevalence estimates than noncarriers. The age at which 15% of the participants with normal cognition were amyloid positive was approximately 40 years for APOE ε4ε4 carriers, 50 years for ε2ε4 carriers, 55 years for ε3ε4 carriers, 65 years for ε3ε3 carriers, and 95 years for ε2ε3 carriers. Amyloid positivity was more common in highly educated participants but not associated with sex or biomarker modality. CONCLUSIONS AND RELEVANCE: Among persons without dementia, the prevalence of cerebral amyloid pathology as determined by positron emission tomography or cerebrospinal fluid findings was associated with age, APOE genotype, and presence of cognitive impairment. These findings suggest a 20- to 30-year interval between first development of amyloid positivity and onset of dementia.