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FFPE samples from cavitational ultrasonic surgical aspirates are suitable for RNA profiling of gliomas.

PLoS One 2021 22;16(7):e0255168. Epub 2021 Jul 22.

Instituto de Investigación Sanitaria y Biomédica de Alicante (ISABIAL), Alicante, Spain.

During surgical procedures for gliomas, tissue material obtained from cavitational ultrasonic surgical aspirators (CUSAs) is generally discarded but can actually exceed the amount and quality of certain tumour core resections (TCRs). Despite reports indicating the suitability of CUSA-derived material for diagnosis and research, its use is still marginal. We extended these conclusions to formalin-fixed, paraffin-embedded (FFPE) samples, the most common format for archival tumour tissue in anatomical pathology departments, by conducting for the first time RNA-seq analysis in CUSA aspirates. Read More

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Pattern And Prevalence of Liver Involvement in Pediatric Acute Lymphoblastic and Myeloid Leukemia at Diagnosis.

J Pediatr Gastroenterol Nutr 2021 Jul 20. Epub 2021 Jul 20.

Department of Pediatrics, Karolinska University Hospital, Stockholm, Sweden Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden Department of Pediatrics, Karolinska University Hospital and Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden Department of Pediatrics, Karolinska University Hospital and CLINTEC Karolinska Institutet, Stockholm, Sweden Department of Pediatrics, University of Helsinki, Helsinki, Finland.

Objectives: The prevalence and significance of liver involvement at diagnosis was studied in pediatric acute lymphoblastic (ALL) and myeloid leukemia (AML).

Methods: A population based cohort of 122 pre B-ALL, 22 T-ALL and 45 AML patients was formed from the Nordic Society of Pediatric Hematology and Oncology leukemia registries (years 2005 - 2017). Hepatomegaly, elevated ALT, high INR, hypoalbuminemia and conjugated hyperbilirubinemia at diagnosis were used as markers for liver involvement. Read More

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Needle-based confocal laser endomicroscopy for diagnosis of pancreatic cystic lesions: a meta-analysis.

Minim Invasive Ther Allied Technol 2021 Jul 22:1-11. Epub 2021 Jul 22.

Department of Gastroenterology, Shengjing Hospital of China Medical University, Shenyang, China.

Background And Aim: The role of needle-based confocal laser endomicroscopy (nCLE) in the diagnosis of pancreatic cystic lesions (PCLs) remains controversial. This study aimed to systematically evaluate the diagnostic accuracy and adverse effects of nCLE in the detection of pathological subtypes in patients with PCLs.

Material And Methods: We conducted a comprehensive literature search using MEDLINE, EMBASE, and Cochrane for identifying studies that reported the use of nCLE for PCLs diagnosis (dated prior to 10 October 2020). Read More

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Assessment of diagnostic value of preoperative elastography in thyroid nodules having indeterminate cytology results.

Turk J Med Sci 2021 Jul 22. Epub 2021 Jul 22.

Background: The management of nodules with indeterminate cytology (atypia of undetermined significance (AUS), follicular lesion of undetermined significance (FLUS), follicular neoplasm (FN), suspicious for a follicular neoplasm (SFN) and suspicious for malignancy (SM)) results is controversial.

Aim: To assess the role of elastography technique in the diagnosis of malignancy in the subtypes of indeterminate thyroid nodules.

Material-methods: We included 132 patients with indeterminate cytology who underwent thyroid surgery. Read More

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[Clinical practice guideline for lympoma in China (2021 Edition)].

Authors:

Zhonghua Zhong Liu Za Zhi 2021 Jul;43(7):707-735

Lymphoma is one of the most common malignancies in China. In China, there were 6 829 new Hodgkin lymphoma cases and 2 807 deaths in 2020, with 92 834 new non-Hodgkin lymphoma cases and 54 351 deaths. Due to the complicated pathological subtypes and heterogeity, the treatment strategies for lymphoma vary largely. Read More

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Chasing the Anchor: A Systematic Review and Meta-Analysis of Perceptual Anchoring Deficits in Developmental Dyslexia.

J Speech Lang Hear Res 2021 Jul 21:1-14. Epub 2021 Jul 21.

Macquire University Centre for Reading, Macquarie University, Sydney, New South Wales, Australia.

Purpose We report the results of a systematic review and meta-analysis investigating the relationship between perceptual anchoring and dyslexia. Our goal was to assess the direction and degree of the effect between perceptual anchoring and reading ability in typical and atypical (i.e. Read More

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Known and new facts on basal cell carcinoma.

J Dtsch Dermatol Ges 2021 Jul;19(7):1021-1041

University Hospital for Dermatology, Venereology, and Allergology, Medical University Innsbruck, Austria.

Basal cell carcinoma (BCC) is the most common malignant tumor in light-skinned people and amounts to about 75 % of all cases of skin cancer. Increasing incidence rates have been reported for decades all over the world. The main risk factors include UV radiation, male sex, light skin type, advanced age, long-term immunosuppression, a positive individual or family history, and certain genodermatoses. Read More

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Evaluation of measurable residual disease in multiple myeloma by multiparametric flow cytometry: Current paradigm, guidelines, and future applications.

Int J Lab Hematol 2021 Jul;43 Suppl 1:43-53

Department of Flow and Image Cytometry, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.

Multiple myeloma (MM) is a heterogeneous group of mature B-cell diseases that are typically characterized by the presence and accumulation of abnormal plasma cells (PCs), which results in the excess production of monoclonal immunoglobulin and/or light chain found in the serum and/or urine. Multiparametric flow cytometry (MFC) is an indispensable tool to supplement the diagnosis, classification and monitoring of the disease due to its high patient applicability, excellent sensitivity and encouraging results from various clinical trials. In this regard, minimal or, more appropriately, measurable residual disease (MRD) negativity by MFC has been recognized as a powerful predictor of favourable long-term outcomes. Read More

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Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.

Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95

Department of Laboratory Medicine, Yale School of Medicine, New Haven, CT, USA.

CEBPA-mutant acute myeloid leukemia (AML) encompasses clinically and biologically distinct subtypes of AML in both adults and children. CEBPA-mutant AML may occur with monoallelic (moCEBPA) or biallelic (biCEBPA) mutations, which can be somatic or germline, with each entity impacting prognosis in unique ways. BiCEBPA AML is broadly associated with a favorable prognosis, but differences in the type and location of CEBPA mutations as well as the presence of additional leukemogenic mutations can lead to heterogeneity in survival. Read More

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Lymphocytes as a Biomarker of Frailty Syndrome: A Scoping Review.

Diseases 2021 Jul 13;9(3). Epub 2021 Jul 13.

Haematology Department, Hospital General Universitario, 46014 Valencia, Spain.

Frailty is a geriatric syndrome characterized by a decrease in physiological reserve and reduced resistance to stress, as a result of an accumulation of multiple deficits in physiological systems. Frailty increases the vulnerability to adverse events and is associated with the aging process. Several studies show an association between frailty syndrome and altered blood lymphocyte levels, which is therefore potentially useful for monitoring interventions to improve or delay frailty. Read More

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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.

Int J Neonatal Screen 2021 Jul 20;7(3). Epub 2021 Jul 20.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Kobe 650-0017, Japan.

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the human spinal cord and subsequent loss of motor neurons. The severe form of SMA is among the genetic diseases with the highest infant mortality. Although SMA has been considered incurable, newly developed drugs-nusinersen and onasemnogene abeparvovec-improve the life prognoses and motor functions of affected infants. Read More

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Comprehensive serum and tissue microRNA profiling in dedifferentiated liposarcoma.

Oncol Lett 2021 Aug 29;22(2):623. Epub 2021 Jun 29.

Division of Molecular and Cellular Medicine, National Cancer Center Research Institute, Tokyo 104-0045, Japan.

Sarcoma is a rare cancer with several subtypes; therefore, our understanding of the pathogenesis of sarcoma is limited, and designing effective treatments is difficult. Circulating microRNAs (miRNAs), including exosomal miRNAs, have attracted attention as biomarkers in cancer. However, the roles of miRNAs and exosomes in sarcoma remain unclear. Read More

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CAN COMPLETE BLOOD CELL COUNT PARAMETERS PREDICT DEEP VEIN THROMBOSIS?

Acta Clin Croat 2020 Dec;59(4):661-666

1Kafkas University, Medical Faculty, Department of Cardiovascular Surgery, Kars, Turkey; 2Kafkas University, Medical Faculty, Department of Biochemistry, Kars, Turkey; 3Amasya University, Medical Faculty, Department of Emergency Medicine, Amasya, Turkey; 4Kafkas University, Medical Faculty, Department of Internal Medicine, Kars, Turkey.

The aim of this study was to evaluate complete blood cell count parameters including red blood cell indices, white blood cell subtypes, and platelet indices for predicting deep vein thrombosis (DVT). A total of 71 (44 male and 27 female) patients with acute femoral and popliteal DVT diagnosed by doppler ultrasonography during a period of seven years (2011-2017) were included in the study. By matching age and gender, 142 (88 male and 54 female) subjects diagnosed with venous insufficiency in the same time interval were assigned as control group. Read More

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December 2020

The human connectome in Alzheimer disease - relationship to biomarkers and genetics.

Nat Rev Neurol 2021 Jul 20. Epub 2021 Jul 20.

Indiana Alzheimer's Disease Research Center, Indiana University School of Medicine, Indianapolis, IN, USA.

The pathology of Alzheimer disease (AD) damages structural and functional brain networks, resulting in cognitive impairment. The results of recent connectomics studies have now linked changes in structural and functional network organization in AD to the patterns of amyloid-β and tau accumulation and spread, providing insights into the neurobiological mechanisms of the disease. In addition, the detection of gene-related connectome changes might aid in the early diagnosis of AD and facilitate the development of personalized therapeutic strategies that are effective at earlier stages of the disease spectrum. Read More

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Advances in the management of alveolar soft part sarcoma.

Curr Probl Cancer 2021 Jul 8:100775. Epub 2021 Jul 8.

Early Clinical Trials Development Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address:

Alveolar Soft Part Sarcoma is one of the less commonly diagnosed soft tissue sarcoma subtypes, an infrequent subtype within the already rare category of human malignancy of sarcoma. In this article we will summarize the histopathological features, natural history and distinct molecular and biological features that have become increasingly appreciated with newer technologies and precision oncology. We will discuss the contemporary management of this disease as well as emerging treatment options. Read More

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Scheimpflug analysis of corneal power changes after hyperopic small incision lenticule extraction.

BMC Ophthalmol 2021 Jul 20;21(1):282. Epub 2021 Jul 20.

Eye Institute and Department of Ophthalmology and Vision Science, Eye & ENT Hospital, Fudan University, No.19 Baoqing Road, Xuhui District, Shanghai, 200031, China.

Purpose: To assess the ability of the Pentacam in predicting the corneal power after hyperopic small-incision lenticule extraction (SMILE).

Methods: Twenty-five eyes of 22 patients underwent hyperopic SMILE were prospectively followed. All patients finished at least 6 months visit. Read More

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Epstein-Barr Virus-Associated T- and NK-Cell Lymphoproliferative Diseases: A Review of Clinical and Pathological Features.

Cancers (Basel) 2021 Jul 1;13(13). Epub 2021 Jul 1.

Department of Pathology, Cancer Institute University of Toulouse-Oncopole, CEDEX 9, 31059 Toulouse, France.

Epstein-Barr virus (EBV) is a ubiquitous virus detected in up to 95% of the general population. Most people are asymptomatic, while some may develop a wide range of EBV-associated lymphoproliferative disorders (LPD). Among them, EBV-positive T/NK LPD are uncommon diseases defined by the proliferation of T- or NK-cells infected by EBV. Read More

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Occupation and subcategories of asthma: a population-based incident case-control study.

Occup Environ Med 2021 Jul 19. Epub 2021 Jul 19.

Center for Environmental and Respiratory Health Research, Oulun yliopisto, Oulu, Finland.

Background: We hypothesised that occupational exposures differently affect subtypes of adult-onset asthma.

Objective: We investigated potential relations between occupation and three subtypes of adult asthma, namely atopic asthma, non-atopic asthma and asthma-COPD overlap syndrome (ACOS).

Methods: This is a population-based case-control study of incident asthma among working-age adults living in Pirkanmaa Hospital District in Southern Finland. Read More

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Screening for monogenic subtypes of gestational diabetes in a high prevalence island population - A whole exome sequencing study.

Diabetes Metab Res Rev 2021 Jul 19:e3486. Epub 2021 Jul 19.

Centre for Molecular Medicine and Biobanking, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.

Aims: The reported frequency of monogenic defects of beta cell function in gestational diabetes (GDM) varies extensively. This study aimed to evaluate the frequency and molecular spectrum of variants in genes associated with monogenic/atypical diabetes in non-obese females of Maltese ethnicity with GDM.

Methods: 50 non-obese females who met the International Association of the Diabetes and Pregnancy Study Groups (IADPSG) criteria for diagnosis of GDM and with a first-degree relative with non-autoimmune diabetes were included in this study. Read More

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The use of explainable artificial intelligence to explore types of fenestral otosclerosis misdiagnosed when using temporal bone high-resolution computed tomography.

Ann Transl Med 2021 Jun;9(12):969

School of Computer Science, Shanghai Key Laboratory of Intelligent Information Processing, Fudan University, Shanghai, China.

Background: The purpose of this study was to explore the common characteristics of fenestral otosclerosis (OS) which are misdiagnosed, and develop a deep learning model for the diagnosis of fenestral OS based on temporal bone high-resolution computed tomography scans.

Methods: We conducted a study to explicitly analyze the clinical performance of otolaryngologists in diagnosing fenestral OS and developed an explainable deep learning model using 134,574 temporal bone high-resolution computed tomography (HRCT) slices collected from 1,294 patients for the automatic diagnosis of fenestral OS. We prospectively created an external test set with 31,774 CT slices from 144 patients, which contained 86 fenestral OS ears and 202 normal ears and used it to evaluate the performance of our otosclerosis-Logical Neural Network (LNN) model to assess its potential clinical utility. Read More

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Uncovering the Subtype-Specific Molecular Characteristics of Breast Cancer by Multiomics Analysis of Prognosis-Associated Genes, Driver Genes, Signaling Pathways, and Immune Activity.

Front Cell Dev Biol 2021 1;9:689028. Epub 2021 Jul 1.

Department of Pathology, Harbin Medical University, Harbin, China.

Breast cancer is a heterogeneous malignant disease with different prognoses and has been divided into four molecular subtypes. It is believed that molecular events occurring in breast stem/progenitor cells contribute to the carcinogenesis and development of different breast cancer subtypes. However, these subtype-specific molecular characteristics are largely unknown. Read More

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Outcomes of surgically managed primary lung sarcomas: a National Cancer Database analysis.

J Thorac Dis 2021 Jun;13(6):3409-3419

Section of Thoracic Surgery, Department of Surgery, Yale School of Medicine, New Haven, CT, USA.

Background: Primary lung sarcoma (PLS) represents a rare form of lung cancer with outcomes that are poorly defined by small datasets. We sought to characterize clinical and pathological characteristics and associated survival within the surgically managed subgroup of these unusual pulmonary malignancies.

Methods: We performed a retrospective analysis of the National Cancer Database (NCDB), which was queried for cases of surgically managed PLS diagnosed between 2004-2014. Read More

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Predicting and Characterizing Neurodegenerative Subtypes with Multimodal Neurocognitive Signatures of Social and Cognitive Processes.

J Alzheimers Dis 2021 Jul 15. Epub 2021 Jul 15.

Universidad de los Andes, Bogotá, Colombia.

Background: Social cognition is critically compromised across neurodegenerative diseases, including the behavioral variant frontotemporal dementia (bvFTD), Alzheimer's disease (AD), and Parkinson's disease (PD). However, no previous study has used social cognition and other cognitive tasks to predict diagnoses of these conditions, let alone reporting the brain correlates of prediction outcomes.

Objective: We performed a diagnostic classification analysis using social cognition, cognitive screening (CS), and executive function (EF) measures, and explored which anatomical and functional networks were associated with main predictors. Read More

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The miRNA content of circulating exosomes in DLBCL patients and in vitro influence of DLBCL-derived exosomes on miRNA expression of healthy B cells from peripheral blood.

Cancer Biomark 2021 Jul 5. Epub 2021 Jul 5.

Department of Hematology, School of Medicine, Pamukkale University, Denizli, Turkey.

Background: Due to the heterogeneous nature of Diffuse Large B-cell Lymphoma (DLBCL), the mechanisms underlying tumor development and progression have not yet been fully elucidated.

Objective: This study aimed to compare the characteristics of plasma exosomes of DLBCL patients and healthy individuals and to evaluate the exosomal interactions between DLBCL cell lines and normal B-cells.

Methods: Exosome isolation was performed using an ultracentrifugation-based protocol from plasma of 20 patients with DLBCL and 20 controls. Read More

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Intraocular mass as first presenting symptom of metastatic squamous cell lung cancer.

Am J Emerg Med 2021 Jun 24. Epub 2021 Jun 24.

Cleveland Clinic Akron General, Department of Emergency Medicine, Akron, OH, Northeast Ohio Medical University, Rootstown, United States of America. Electronic address:

Lung cancer is one of the leading causes of cancer related mortality worldwide. Currently, it is the third most common cancer behind prostate and breast cancer. Approximately 85% of all lung cancers are non-small-cell lung cancers (NSCLC). Read More

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First case of huge classic papillary thyroid cancer rupturing spontaneously leading to ischemic necrosis, perforation and inflammation of overlying skin: Case report and review of the literature.

Int J Surg Case Rep 2021 Jun 29;85:106136. Epub 2021 Jun 29.

Department of General Surgery, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.

Introduction: Papillary thyroid cancer (PTC) is the commonest form of well-differentiated endocrine carcinoma. It is categorized into indolent and aggressive, where the indolent subtypes (classic, follicular) rarely demonstrate aggressive behavior. We present a classic PTC presenting with a rapidly growing huge anterior neck mass that subsequently spontaneously ruptured subcutaneously resulting in ischemia, necrosis, and perforation of overlying skin leading to inflammation. Read More

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Microfluidic chip for rapid and selective isolation of tumor-derived extracellular vesicles for early diagnosis and metastatic risk evaluation of breast cancer.

Biosens Bioelectron 2021 Jul 9;192:113495. Epub 2021 Jul 9.

Department of Mechanical Engineering, Yonsei University, Seodaemun-gu, Seoul, 03722, Republic of Korea. Electronic address:

The epithelial-to-mesenchymal transition (EMT) index in cancer is a complementary approach for estimating metastatic risk. Considering the demand for evaluating metastatic risk based on liquid biopsies, tumor-derived extracellular vesicles (EVs) can be exploited to generate the EMT index. For the generation of EVs-based EMT index, it is essential to selectively isolate each epithelial cell and mesenchymal cell-derived EVs. Read More

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Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse.

Neuro Oncol 2021 Jul 17. Epub 2021 Jul 17.

Newcastle University Centre for Cancer, Translational & Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.

Background: <5% of medulloblastoma patients survive following failure of contemporary radiation-based therapies. Understanding the molecular drivers of medulloblastoma relapse (rMB) will be essential to improve outcomes. Initial genome-wide investigations suggested significant genetic divergence of the relapsed disease. Read More

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Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

Brain Dev 2021 Jul 13. Epub 2021 Jul 13.

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

Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of rare inherited neurodegenerative disorders. Ten types of NBIA are known. Studies reporting various NBIA subtypes together are few. Read More

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