scholarly journals Assessing interobserver variability and accuracy in the histological diagnosis and classification of cutaneous neurofibromass

2019 ◽  
Vol 2 (Supplement_1) ◽  
pp. i117-i123 ◽  
Author(s):  
Nicolas Ortonne ◽  
Steven L Carroll ◽  
Fausto J Rodriguez ◽  
Douglas C Miller ◽  
Rosalynn M Nazarian ◽  
...  
Keyword(s):  
Interobserver Agreement ◽  
Neurofibromatosis Type ◽  
Free Text ◽  
Diagnosis And Classification ◽  
Definition Of ◽  
Cutaneous Neurofibromas ◽  
Strong Agreement

Abstract Background Cutaneous neurofibromas (cNFs) are the most common tumors in people with neurofibromatosis type 1 (NF1) and are associated with reduced quality of life. There is currently no widely accepted standardized language for describing cNFs clinically or histopathologically. The objective of this study was to evaluate interobserver agreement across pathologists in describing and reporting of neurofibromas involving the skin. Methods Twenty-eight (H&E)-stained slides of cNF were scanned using an Aperio XT scanner. The digital images were reviewed by 6 pathologists, who entered free text of up to a 200 word description for each case into a REDcap database. Responses were analyzed for the most commonly used terms based on frequency, as well as agreement (reported as concordance) between reviewers. Results A set of the terms most commonly used by pathologists for the histological classification of cNF along with areas of agreement and disagreement have been identified. The study shows that there was strong agreement across reviewers that not all neurofibromas involving the skin are cutaneous neurofibromas and regarding the presence or absence of atypical features and heterologous elements. Areas of less concordance were identified and include cNF subtypes, definition of extension and pattern of growth, as well as the distinction of a cNF from a plexiform without an intraneural component involving skin. Conclusions This work is the first step towards development of a robust classification system and devising “gold standard” histopathologic diagnostic criteria for cutaneous neurofibromas.

scholarly journals REiNS: Measuring the Impact of Cutaneous Neurofibromas on Quality of Life in Neurofibromatosis Type 1

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012427
Author(s):  
Sheilagh Maguiness ◽  
Yemima Berman ◽  
Nathan Rubin ◽  
Melissa Dodds ◽  
Scott R. Plotkin ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Quality Of Life Measures ◽  
Clinic Site ◽  
Related Quality ◽  
The Impact ◽  
Cutaneous Neurofibromas

Objective:In order to explore the use of Skindex scoring in NF1 patients across multiple clinical sites, and inform design of additional quality of life measures, we analysed correlations between skindex, site and clinical parameters for 79 patients with NF1 from specialised clinics in Sydney, NSW Australia (RNS) and Minneapolis Minnesota, USA (UMN).Methods:The relationship between the clinical factors and Skindex scores were explored by clinic site and overall.Results:40 subjects were recruited from RNS and 39 from UMN. Female sex, total number of cNFs, and whether cNFs were present on the face, correlated highly with skindex and not Riccardi scores. The UMN site had lower average scores, but these differences were almost entirely removed after adjusting for age, sex, facial CNFs and total CNF number.Conclusions:The development of cutaneous neurofibromas (cNFs) in adolescence and adulthood in neurofibromatosis, type 1 (NF1) often lead to progressive disfigurement and discomfort, and are among one of the most common reasons for patients to seek medical treatment. Skindex has been used to assess skin related quality of life in NF1 previously but is not specific to NF1. These findings highlight the need for a low threshold for referral to Dermatologists for all patients with Neurofibromatosis Type 1 regardless of the severity of disease. The finding that facial CNFs and higher total number of CNFs correlates with poorer skin related quality of life, may benefit design of more specific NF1 skin related quality of life measures.

The challenges of diagnosing diabetes in childhood

Diagnosis ◽  
2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Mairi Pucci ◽  
Marco Benati ◽  
Claudia Lo Cascio ◽  
Martina Montagnana ◽  
Giuseppe Lippi
Keyword(s):  
Diabetes Mellitus ◽  
Children And Young People ◽  
Narrative Literature ◽  
Diagnosis And Classification ◽  
Narrative Literature Review ◽  
Optimal Approach ◽  
Diagnostic Step

AbstractDiabetes is one of the most prevalent diseases worldwide, whereby type 1 diabetes mellitus (T1DM) alone involves nearly 15 million patients. Although T1DM and type 2 diabetes mellitus (T2DM) are the most common types, there are other forms of diabetes which may remain often under-diagnosed, or that can be misdiagnosed as being T1DM or T2DM. After an initial diagnostic step, the differential diagnosis among T1DM, T2DM, Maturity-Onset Diabetes of the Young (MODY) and others forms has important implication for both therapeutic and behavioral decisions. Although the criteria used for diagnosing diabetes mellitus are well defined by the guidelines of the American Diabetes Association (ADA), no clear indications are provided on the optimal approach to be followed for classifying diabetes, especially in children. In this circumstance, both routine and genetic blood test may play a pivotal role. Therefore, the purpose of this article is to provide, through a narrative literature review, some elements that may aid accurate diagnosis and classification of diabetes in children and young people.

scholarly journals A Cross-Sectional Study of Gender Differences in Quality of Life Domains in Patients With Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Geohana Hamoy-Jimenez ◽  
Hadiya Elahmar ◽  
Meg Mendoza ◽  
Raymond Kim ◽  
Vera Bril ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Physical Appearance ◽  
Neurofibromatosis Type ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Appearance Anxiety ◽  
Sf 36

Abstract Background. There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in Canada.Methods: This is a cross sectional study of adults with Neurofibromatosis type 1 attending a tertiary NF centre at Toronto General Hospital between January 2016 to December 2017. Demographic and clinical data were collected. We compared scores of generic measures (SF-36, EQ-5D-5L, pain interference) and a disease-specific measure (PedsQL-NF1 module) between women and men. We also assessed the relationship between disease visibility scored by an examiner (Ablon’s visibility index) and self-reported perceived physical appearance, stratified by gender.Results. One hundred and sixty-two participants were enrolled, 92 females and 70 males. Ablon’s index score 1 was in 43% and score 2 in 44%, while only 13% of patients had a score 3. Women had worse scores on the total PedsQL-NF1 scales, and also in the perceived physical appearance, anxiety and emotional health domains. In women, there was a significant association between Ablon’s index and perceived physical appearance, with lower scores with increments in Ablon’s class (ANOVA p<0.001). In men, there was no difference in self-reported physical appearance by Ablon’s index. There were no differences between men and women in the SF-36 or EQ-5D-5L scores.Conclusion. Women with NF1 reported worse NF1-related quality of life than men, with worse perceived physical appearance, anxiety, and mental health. Perceived physical appearance did not always correlate to disease visibility; therefore, healthcare providers should inquire about body image, physical appearance concerns, and mental health, especially among women with NF1.

scholarly journals THEORETICAL FUNDAMENTALS OF ESTIMATABILITY ASSESSMENT OF TRAIN SITUATION SIGNS FOR WORK OF INTELLECTUAL LOCOMOTIVE CONTROL SYSTEMS

2021 ◽  
Vol 1 (38) ◽  
pp. 223-231
Author(s):  
O. Gorobсhenko
Keyword(s):  
Control Systems ◽  
Random Search ◽  
Information Value ◽  
Train Control ◽  
Relative Value ◽  
Basic Parameters ◽  
Control Decision ◽  
Definition Of

The article is devoted to the problem of implementation of intelligent control systems in transport. An important task is to assess the information parameters of the control systems. In the existing works the question of definition of one of the basic parameters of functioning of locomotive control systems - information value of separate signs of a train situation is not considered. This does not make it possible to determine the order of signal processing at the input and assess their contribution to the adoption of a control decision. Moreover, informativeness is a relative value, which is expressed in the different information value of a particular feature for the classification of different train situations. Also, the informativeness of the feature may depend on the type of decisive rules in the classification procedure. The quality of recognition of a train situation in which the locomotive crew is, depends on the quality of the features used by the classification system. The decisive criterion for the informativeness of the features in the problem of pattern recognition is the magnitude of losses from errors. To determine the range of the most informative features of train situations, the method of random search with adaptation was used. The results of the work make it possible to optimize the operation of automated and intelligent train control systems by reducing the amount of calculations and simplifying their algorithm.

scholarly journals Surgery Combined With Embolization in the Treatment of Plexiform Neurofibroma: A Case Report and Literature Review

2021 ◽  
Vol 6 (4) ◽  
pp. 01-04
Author(s):  
Reinaldo Filho
Keyword(s):  
Plexiform Neurofibroma ◽  
Arterial Embolization ◽  
Neurofibromatosis Type ◽  
Self Esteem ◽  
Life Threatening ◽  
Feeding Vessels ◽  
The Right ◽  
Polyvinyl Alcohol Particles

Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem genodermatosis resulting from a mutation on chromosome 17q11.2, characterized by diverse clinical expression with involvement of the skin, nervous system, bones, eyes and other systems. Neurofibromas are tumors located along nerve bundles; when they become large, they are called plexiform neurofibromas. Complications of neurofibromas are rare, but include malignant transformation and potentially life-threatening hemorrhages. A comprehensive perioperative management, including arterial embolization of feeding vessels, is required in order to perform a safe surgical procedure and to reduce potential surgical complications. We report a case of a large plexiform neurofibroma on the right flank, treated in a two-stage approach: first, embolization with polyvinyl alcohol particles of the inferior epigastric, lumbar and superior gluteal arteries on the right and, second, 24 hours after embolization, exeresis of the lesion, which weighed 2.5 kg. Two years after surgery, the patient was asymptomatic, without tumor recurrence and with an important improvement in self-esteem and quality of life.

Pathophysiology, Classification, Clinical Diagnosis and Treatment of Primary Epiretinal Membrane

2018 ◽  
pp. 262-267
Keyword(s):  
Clinical Examination ◽  
Epiretinal Membrane ◽  
Posterior Vitreous Detachment ◽  
Internal Limiting Membrane ◽  
Non Invasive ◽  
Diagnosis And Classification ◽  
Pars Plana ◽  
Vitreomacular Interface

Epiretinal membrane (ERM), also known as macular pucker, premacular fibroplasia, premacular gliosis, or cellophane maculopathy is a common vitreoretinal interface pathology that can result in mild to moderate visual impairment with an impact on the quality of life. ERM can be classified as primary “idiopathic” or secondary. Most ERMs occur in individuals older than 50 years, and the prevalence of ERM increases as age increases. The pathological mechanisms are not entirely known, however, the posterior vitreous detachment is thought to be key. Diagnosis and classification of ERM are based on clinical examination findings. However, high resolution spectral domain-optic coherence tomographies (SD-OCTs) have proven to be more sensitive than clinical examination for the diagnosis of numerous disorders of the vitreomacular interface, including ERM. SD-OCTs enable the pre-and postoperative comparison of macular structures in a non-invasive examination. In treatment, surgical intervention entails pars plana vitrectomy with ERM removal with or without internal limiting membrane (ILM) removal. Good visual recovery was present in most patients after surgery.

scholarly journals Quality of life in patients with neurofibromatosis type 1 and 2 in Canada

2020 ◽  
Vol 2 (Supplement_1) ◽  
pp. i141-i149
Author(s):  
Geohana Hamoy-Jimenez ◽  
Raymond Kim ◽  
Suganth Suppiah ◽  
Gelareh Zadeh ◽  
Vera Bril ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neurofibromatosis Type 1 ◽  
Physical Appearance ◽  
Well Being ◽  
Neurofibromatosis Type ◽  
Pain Interference ◽  
Sf 36 ◽  
Tertiary Center

Abstract Background There is scarce data on the quality of life of people with neurofibromatosis type 1 (NF1) and type 2 (NF2) in Canada. Methods A cross-sectional study of adults with NF1 and NF2 attending a tertiary center. Patients completed generic measures (SF-36, EQ-5D-5L, and PROMIS pain interference) and disease-specific questionnaires (PedsQL NF1 module and the NFTI-QOL for NF2). We compared generic scores between NF1 and NF2 individuals and used regression models to assess factors associated with quality of life. Results Hundred and eighty-four participants were enrolled. Mean age was 33 years in NF1 and 40 years in NF2. NF1 and NF2 individuals had lower employment rates and lower scores in all domains of the SF-36 compared to the general Canadian population (P &lt; .005). Using the EQ-5D-5L, there was a high proportion of pain (64% in NF1 and 74% in NF2) and anxiety/depression (60% in NF1 and 68% in NF2). Pain interference correlated with poor quality of life in NF1 and NF2; perceived physical appearance was the main predictor of mental well-being in NF1. Conclusions Individuals with NF1 and NF2 have low quality of life, and this correlates with pain, anxiety, and depression, which are prevalent in NF1 and NF2. Perceived physical appearance predicts quality of life in NF1. A multidisciplinary approach is necessary for patients with NF1 and NF2, including mental health and pain management.

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