scholarly journals Value of autopsy in Internal Medicine: discrepancies between clinical and postmortem diagnosis

2012 ◽  
Author(s):  
Fabrizio Tiratterra ◽  
Valeria Pignatelli ◽  
Alberto Placido ◽  
Agostino Valenti ◽  
Umberto Recine
Keyword(s):  
Internal Medicine ◽  
Clinical Diagnosis ◽  
Correct Diagnosis ◽  
Diagnostic Techniques ◽  
Postmortem Diagnosis ◽  
Substantial Discrepancy ◽  
Time Period

Introduction The number of autoptic controls is progressively dropping worldwide during the last decades. Several social, cultural and normative causes may underlie this phenomenon. However, a hidden cause may be represented by the scepticism of physicians about the gain in information given by this practice. There is in fact a general thinking that available diagnostic techniques may be adequate for a correct diagnosis, even in the case of a mortal outcome. Nevertheless, several studies have shown quite relevant discrepancies between premortem and postmortem diagnosis. In this study, the authors evaluate the accuracy of clinical diagnosis in diseases leading the patient to death.Materials and methods Retrospective analysis including all patients died in the Department of Internal Medicine of a General Hospital in Rome during a three year time period (1st January 2007–31 December 2009). Age, sex, period of hospitalization, clinical diagnosis, autoptic diagnosis, cause of death, and level of discrepancy between clinical diagnosis and autoptic control have been collected. Main diagnoses have been classified as follows: (1) discrepancy with a possible influence on survival; (2) discrepancy with no or questionable influence on survival.Results Ninety-two cases (42 males, 50 females; mean age 79.3 years) have been included. Thirty-four main diagnoses (36.9%) have been classified as discrepant (15.2% classified as type 1 discrepancy and 21.7 as type 2).DiscussionA substantial discrepancy between clinical diagnosis and autoptic control is confirmed by the current study, which supports the role of autopsy as a tool for the improvement of medical practice.

scholarly journals Role of Oral Antioxidant Supplementation in the Current Management of Diabetic Retinopathy

2021 ◽  
Vol 22 (8) ◽  
pp. 4020
Author(s):  
Enrique Antonio Alfonso-Muñoz ◽  
Raquel Burggraaf-Sánchez de las Matas ◽  
Jorge Mataix Boronat ◽  
Julio César Molina Martín ◽  
Carmen Desco
Keyword(s):  
Diabetic Retinopathy ◽  
Diabetic Macular Oedema ◽  
Complementary Therapy ◽  
Antioxidant Supplementation ◽  
Current Management ◽  
Adult Type ◽  
Aged People

Oxidative stress has been postulated as an underlying pathophysiologic mechanism of diabetic retinopathy (DR), the main cause of avoidable blindness in working-aged people. This review addressed the current daily clinical practice of DR and the role of antioxidants in this practice. A systematic review of the studies on antioxidant supplementation in DR patients was presented. Fifteen studies accomplished the inclusion criteria. The analysis of these studies concluded that antioxidant supplementation has a IIB level of recommendation in adult Type 1 and Type 2 diabetes mellitus subjects without retinopathy or mild-to-moderate nonproliferative DR without diabetic macular oedema as a complementary therapy together with standard medical care.

scholarly journals EXPRESS: Pulmonary Hypertension Associated With Neurofibromatosis Type 2

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Remodeling ◽  
Life Threatening ◽  
History Of ◽  
Pulmonary Arterial ◽  
First Time

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

Identification of Type 2 von Willebrand Disease in Previously Diagnosed Type 1 Patients: a Reappraisal Using Phenotypes, Genotypes and Molecular Modelling

2000 ◽  
Vol 84 (12) ◽  
pp. 998-1004 ◽  
Author(s):  
Ioana Nitu-Whalley ◽  
Anne Riddell ◽  
K. Pasi ◽  
Dale Owens ◽  
M. Enayat ◽  
...  
Keyword(s):  
Molecular Modelling ◽  
Correct Diagnosis ◽  
Von Willebrand Disease ◽  
Single Amino Acid ◽  
Elisa Assay ◽  
Modelling Analysis ◽  
A1 Domain ◽  
Von Willebrand

SummaryIn order to investigate the possibility that qualitative type 2 defects in von Willebrand factor (VWF) occurred in patients previously diagnosed with quantitative type 1 von Willebrand disease (VWD), the phenotypes and genotypes were reanalysed in 30 patients who exhibited discrepant VWF activity/VWF:Ag ratios of less than 0.7. The capacity of VWF to bind to glycoprotein Ib (GpIb) was reassessed using the ristocetin co-factor activity (VWF:RiCo) assay compared to an in-house and a commercial ELISA assay (based on a mAb directed against the GpIb binding site on VWF). This was supplemented by multimeric analysis and the amplification and sequencing of a 936 bp fragment of exon 28 of the VWF gene with the aim of identifying mutations in the A1 domain. On reappraisal, using the VWF:RiCo assay all patients demonstrated a disproportionately reduced VWF:RiCo/VWF:Ag ratio, indicative of a qualitative defect, while abnormal ratios were detected in only seven kindreds using the in-house ELISA assay and in only one kindred with the commercial ELISA assay. Eight single amino acid substitutions were found in nine kindreds, four of which were novel candidate VWF mutations and four previously described in association with type 2 VWD. In agreement with the phenotype, the novel VWF mutations were located in the VWF-A1 crystal structure at positions that corresponded to potential type 2M defects. This study underlines the difficulties of correct diagnosis of the subtype of VWD and emphasises the importance of using sensitive phenotypic assays, the relevance of the VWF:RiCo/ VWF:Ag ratio, multimeric analysis and molecular modelling analysis.

The role of modifiable pre-pregnancy risk factors in preventing adverse fetal outcomes among women with type 1 and type 2 diabetes

2009 ◽  
Vol 88 (10) ◽  
pp. 1153-1157 ◽  
Author(s):  
Melanie E. Inkster ◽  
Tom P. Fahey ◽  
Peter T. Donnan ◽  
Graham P. Leese ◽  
Gary J. Mires ◽  
...  
Keyword(s):  
Risk Factors ◽  
Type 2 Diabetes ◽  
Fetal Outcomes ◽  
Pregnancy Risk

Keratoprostheses in silicone oil-filled eyes: long-term outcomes

2018 ◽  
Vol 103 (6) ◽  
pp. 781-788 ◽  
Author(s):  
Geetha Iyer ◽  
Bhaskar Srinivasan ◽  
Shweta Agarwal ◽  
Ruchika Pattanaik ◽  
Ekta Rishi ◽  
...  
Keyword(s):  
Silicone Oil ◽  
Vitreoretinal Surgery ◽  
Retrospective Chart Review ◽  
Protective Role ◽  
Visual Rehabilitation ◽  
Two Factors

PurposeTo analyse the functional and anatomical outcomes of different types of keratoprostheses in eyes with retained silicone oil following vitreoretinal surgery.MethodsRetrospective chart review of patients operated with any type of permanent keratoprosthesis (Kpro) in silicone oil-filled eyes between March 2003 and June 2017 were analysed.Results40 silicone oil-filled eyes underwent keratoprostheses, of which 22 were type 1 and 18 were type 2 Kpros (Lucia variant—nine, modified osteo odonto kerato prosthesis (MOOKP)—four, Boston type 2—three and osteoKpro—two) with a mean follow-up of 61.54 , 42.77, 45.25 , 25 and 37 months, respectively. Anatomic retention of the primary Kpro was noted in 33 eyes (82.5%). A best-corrected visual acuity of better than 20/200 and 20/400 was achieved in 26 (65%)+32 (80%) eyes. Retroprosthetic membrane (RPM) was the most common complication noted in 17 eyes (42.5%). Perioptic graft melt was noted in 4 of 22 eyes of the type 1 Kpro (2 (10.5%) without associated ocular surface disorder (OSD)) and in 1 eye each of Boston and Lucia type 2 Kpro. Laminar resorption occurred in one eye each of the MOOKP and OKP groups. Endophthalmitis and glaucoma did not occur in any eye.ConclusionAppropriately chosen keratoprosthesis is a viable option for visual rehabilitation in eyes post vitreoretinal surgery with retained silicone oil-induced keratopathy not amenable to conventional penetrating keratoplasty. Kpro melt among type 1 Kpro did not occur in 89.5% eyes without associated OSD (19 of 22 eyes), despite the lack of aqueous humour and presence of RPM (4 eyes), two factors considered to play a significant role in the causation of sterile melts. Of interest to note was the absence of infection in any of these eyes. The possible protective role of oil from endophthalmitis is interesting, though yet to be ascertained.

scholarly journals The role of selected mechanisms of innate immunity in the pathogenesis of diabetes

2021 ◽  
Vol 11 (9) ◽  
pp. 544-549
Author(s):  
Paulina Trojanowska ◽  
Magdalena Chrościńska-Krawczyk ◽  
Alina Trojanowska ◽  
Ewa Tywanek ◽  
Jakub Wronecki ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Metabolic Diseases ◽  
Inflammatory Diseases ◽  
The Body ◽  
Low Grade ◽  
Intracellular Space ◽  
Cytoplasmic Proteins

Understanding the important role of the non-specific immune response in protecting the body against the development of numerous diseases has become partially possible after the discovery of several classes of pattern recognition receptors (PRR), such as Toll-like or NOD-like receptors. A group of cytoplasmic proteins called the inflammasome, which detect PAMP and DAMP through the PRR receptors, is able to activate pro-inflammatory cytokines and trigger an acute inflammatory reaction both in the extracellular and intracellular space. Low-grade systemic and local inflammation contributes to the development and progression of various conditions, including autoimmune and metabolic diseases, such as diabetes, metabolic syndrome and atherosclerosis, which until recently were not even considered inflammatory diseases. This review will discuss the role of innate immunity in the development of type 1 and type 2 diabetes, focusing on the role of specific innate immunity receptors and insulin resistance involved in these diseases pathogenesis.

scholarly journals Role of a registered dietitian in pediatric type 1 and type 2 diabetes

2017 ◽  
Vol 6 (4) ◽  
pp. 365-372 ◽  
Author(s):  
Tracie J. Steinke ◽  
Elena L. O’Callahan ◽  
Jennifer L. York
Keyword(s):  
Type 2 Diabetes ◽  
Registered Dietitian

Glial Cells and Pro-inflammatory Cytokines as Shared Neurobiological Bases for Chronic Pain and Psychiatric Disorders

2020 ◽  
pp. 27-49
Author(s):  
Judith A. Strong ◽  
Sang Won Jeon ◽  
Jun-Ming Zhang ◽  
Yong-Ku Kim
Keyword(s):  
Chronic Pain ◽  
Nervous System ◽  
Psychiatric Disorders ◽  
Inflammatory Cytokines ◽  
Glial Cells ◽  
Neuronal Excitability ◽  
Pro Inflammatory Cytokines

This chapter reviews the roles of cytokines and glial cells in chronic pain and in psychiatric disorders, especially depression. One important role of cytokines is in communicating between activated glia and neurons, at all levels of the nervous system. This process of neuroinflammation plays important roles in pain and depression. Cytokines may also directly regulate neuronal excitability. Many cytokines have been implicated in both pain and psychiatric disorders, including interleukin-1β‎ (IL-1β‎), tumor necrosis factor-α‎, and IL-6. More generally, an imbalance between type 1, pro-inflammatory cytokines and type 2, anti-inflammatory cytokines has been implicated in both pain and psychiatric disorders. Activation of the sympathetic nervous system can contribute to both pain and psychiatric disorders, in part through its actions on inflammation and the cytokine profile.

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