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Diagnostics, Volume 10, Issue 5

2020 May - 88 articles

Cover Story: Magnetic lateral flow immunoassays (LFIAs) are emerging as powerful biosensors for diagnostics. On one hand, magnetic nanoparticles (MNPs) used as labels can be quantified by external devices, allowing the development of simple tests with quantitative capability. They can be used with optical and magnetic sensing, and they can also be detected by the naked eye. On the other hand, MNPs are used for immunomagnetic separation, enabling sensitivity and selectivity improvements. On this basis, magnetic LFIAs have been recently used for the determination of biomarkers, pathogens, toxins, allergens and drugs. The limits of detection reported were better than those achieved with conventional labels (gold and latex nanoparticles). In this paper, we have analysed the current knowledge on magnetic lateral flow immunoassays, with a special focus on the type of magnetic nanoparticles used and magnetic principles for transduction. View this paper
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Articles (88)

  • Review
  • Open Access
31 Citations
11,890 Views
15 Pages

The Diagnostic Dilemma of Malignant Biliary Strictures

  • Robert Dorrell,
  • Swati Pawa,
  • Yi Zhou,
  • Neeraj Lalwani and
  • Rishi Pawa

The differential diagnosis for biliary strictures is broad. However, the likelihood of malignancy is high. Determining the etiology of a biliary stricture requires a comprehensive physical exam, laboratory evaluation, imaging, and ultimately tissue a...

  • Review
  • Open Access
20 Citations
6,493 Views
17 Pages

Recent Advances: The Imbalance of Immune Cells and Cytokines in the Pathogenesis of Hepatocellular Carcinoma

  • Kumar Jayant,
  • Nagy Habib,
  • Kai W. Huang,
  • Jane Warwick and
  • Ramesh Arasaradnam

Recent advancement in the immunological understanding of genesis of hepatocellular carcinoma (HCC) has implicated a decline in anti-tumour immunity on the background of chronic inflammatory state of liver parenchyma. The development of HCC involves a...

  • Review
  • Open Access
32 Citations
5,549 Views
18 Pages

Parkinson’s Disease: Available Clinical and Promising Omics Tests for Diagnostics, Disease Risk Assessment, and Pharmacotherapy Personalization

  • Oxana P. Trifonova,
  • Dmitri L. Maslov,
  • Elena E. Balashova,
  • Guzel R. Urazgildeeva,
  • Denis A. Abaimov,
  • Ekaterina Yu. Fedotova,
  • Vsevolod V. Poleschuk,
  • Sergey N. Illarioshkin and
  • Petr G. Lokhov

Parkinson’s disease is the second most frequent neurodegenerative disease, representing a significant medical and socio-economic problem. Modern medicine still has no answer to the question of why Parkinson’s disease develops and whether...

  • Article
  • Open Access
15 Citations
4,241 Views
14 Pages

Proteomics-Based Identification of Diagnostic Biomarkers Related to Risk Factors and Pathogenesis of Ischemic Stroke

  • Jiyeong Lee,
  • Arum Park,
  • Sora Mun,
  • Hyo-Jin Kim,
  • Hyunsong Son,
  • Hyebin Choi,
  • Doojin Kim,
  • Soo Joo Lee,
  • Jae Guk Kim and
  • Hee-Gyoo Kang

Ischemic stroke is caused by blood clot formation and consequent vessel blockage. Proteomic approaches provide a cost-effective alternative to current diagnostic methods, including computerized tomography (CT) scans and magnetic resonance imaging (MR...

  • Article
  • Open Access
14 Citations
3,628 Views
14 Pages

The Double-Edged Sword of T1-Mapping in Systemic Sclerosis—A Comparison with Infectious Myocarditis Using Cardiovascular Magnetic Resonance

  • George Markousis-Mavrogenis,
  • Loukia Koutsogeorgopoulou,
  • Gikas Katsifis,
  • Theodoros Dimitroulas,
  • Genovefa Kolovou,
  • George D. Kitas,
  • Petros P. Sfikakis and
  • Sophie I. Mavrogeni

Aims: T1-mapping is considered a surrogate marker of acute myocardial inflammation. However, in diffuse cutaneous systemic sclerosis (dcSSc) this might be confounded by coexisting myocardial fibrosis. We hypothesized that T1-based indices should not...

  • Article
  • Open Access
14 Citations
25,971 Views
12 Pages

Plasma Zinc Levels in Males with Androgenetic Alopecia as Possible Predictors of the Subsequent Conservative Therapy’s Effectiveness

  • Irina N. Kondrakhina,
  • Dmitry A. Verbenko,
  • Alexander M. Zatevalov,
  • Eugenia R. Gatiatulina,
  • Alexandr A. Nikonorov,
  • Dmitrij G. Deryabin and
  • Alexey A. Kubanov

Androgenic alopecia (AGA) is the most common type of progressive hair loss in man. The search for reliable predictors of the conservative treatment’s effectiveness is an urgent problem today. Forty-eight patients with AGA, stages I–IV by...

  • Review
  • Open Access
165 Citations
21,232 Views
17 Pages

The Bland–Altman Limits of Agreement is a popular and widespread means of analyzing the agreement of two methods, instruments, or raters in quantitative outcomes. An agreement analysis could be reported as a stand-alone research article but it...

  • Article
  • Open Access
16 Citations
4,713 Views
17 Pages

Subjective Versus Quantitative Methods of Assessing Breast Density

  • Wijdan Alomaim,
  • Desiree O’Leary,
  • John Ryan,
  • Louise Rainford,
  • Michael Evanoff and
  • Shane Foley

In order to find a consistent, simple and time-efficient method of assessing mammographic breast density (MBD), different methods of assessing density comparing subjective, quantitative, semi-subjective and semi-quantitative methods were investigated...

  • Article
  • Open Access
12 Citations
5,146 Views
13 Pages

Diagnosis of Parkinson’s Disease by A Metabolomics-Based Laboratory-Developed Test (LDT)

  • Petr G. Lokhov,
  • Oxana P. Trifonova,
  • Dmitry L. Maslov,
  • Steven Lichtenberg and
  • Elena E. Balashova

A laboratory-developed test (LDT) is a type of in vitro diagnostic test that is designed, manufactured and used in the same laboratory (i.e., an in-house test). In this study, a metabolomics-based LDT was developed. This test involves a blood plasma...

  • Communication
  • Open Access
15 Citations
8,175 Views
6 Pages

Optimization of the CDC Protocol of Molecular Diagnosis of COVID-19 for Timely Diagnosis

  • Chao-Ju Chen,
  • Li-Ling Hsieh,
  • Shu-Kai Lin,
  • Chu-Feng Wang,
  • Yi-Hui Huang,
  • Shang-Yi Lin and
  • Po-Liang Lu

Coronavirus disease 2019 (COVID-19), the current uncontrolled outbreak of infectious disease, has caused significant challenges throughout the world. A reliable rapid diagnostic test for COVID-19 is demanded worldwide. The real-time reverse transcrip...

  • Review
  • Open Access
30 Citations
28,484 Views
15 Pages

Sonographic Pearls for Imaging the Brachial Plexus and Its Pathologies

  • Po-Cheng Hsu,
  • Ke-Vin Chang,
  • Kamal Mezian,
  • Ondřej Naňka,
  • Wei-Ting Wu,
  • Yi-Chiang Yang,
  • Stefan Meng,
  • Vincenzo Ricci and
  • Levent Özçakar

The brachial plexus (BP) is a complicated neural network, which may be affected by trauma, irradiation, neoplasm, infection, and autoimmune inflammatory diseases. Magnetic Resonance Imaging is the preferred diagnostic modality; however, it has the li...

  • Article
  • Open Access
76 Citations
10,577 Views
21 Pages

Human infertility is considered as a serious disease of the reproductive system that affects more than 10% of couples across the globe and over 30% of the reported cases are related to men. The crucial step in the assessment of male infertility and s...

  • Article
  • Open Access
21 Citations
5,694 Views
18 Pages

Improving Access to Diagnostics for Schistosomiasis Case Management in Oyo State, Nigeria: Barriers and Opportunities

  • G-Young Van,
  • Adeola Onasanya,
  • Jo van Engelen,
  • Oladimeji Oladepo and
  • Jan Carel Diehl

Schistosomiasis is one of the Neglected Tropical Diseases that affects over 200 million people worldwide, of which 29 million people in Nigeria. The principal strategy for schistosomiasis in Nigeria is a control and elimination program which comprise...

  • Review
  • Open Access
35 Citations
12,159 Views
10 Pages

The purpose of an electronic health information system (EHIS) is to support health care workers in providing health care services to an individual client and to enable data exchange among service providers. The demand to explore the use of EHIS for d...

  • Review
  • Open Access
21 Citations
6,241 Views
17 Pages

Role of Body-Fluid Biomarkers in Alzheimer’s Disease Diagnosis

  • Thuy Trang Nguyen,
  • Qui Thanh Hoai Ta,
  • Thi Kim Oanh Nguyen,
  • Thi Thuy Dung Nguyen and
  • Van Giau Vo

Alzheimer’s disease (AD) is a complex neurodegenerative disease that requires extremely specific biomarkers for its diagnosis. For current diagnostics capable of identifying AD, the development and validation of early stage biomarkers is a top...

  • Article
  • Open Access
150 Citations
21,258 Views
22 Pages

Deep Learning Based Automatic Malaria Parasite Detection from Blood Smear and Its Smartphone Based Application

  • K. M. Faizullah Fuhad,
  • Jannat Ferdousey Tuba,
  • Md. Rabiul Ali Sarker,
  • Sifat Momen,
  • Nabeel Mohammed and
  • Tanzilur Rahman

Malaria is a life-threatening disease that is spread by the Plasmodium parasites. It is detected by trained microscopists who analyze microscopic blood smear images. Modern deep learning techniques may be used to do this analysis automatically. The n...

  • Article
  • Open Access
57 Citations
8,099 Views
13 Pages

Detection and Diagnosis of Breast Cancer Using Artificial Intelligence Based Assessment of Maximum Intensity Projection Dynamic Contrast-Enhanced Magnetic Resonance Images

  • Mio Adachi,
  • Tomoyuki Fujioka,
  • Mio Mori,
  • Kazunori Kubota,
  • Yuka Kikuchi,
  • Wu Xiaotong,
  • Jun Oyama,
  • Koichiro Kimura,
  • Goshi Oda and
  • Ukihide Tateishi
  • + 2 authors

We aimed to evaluate an artificial intelligence (AI) system that can detect and diagnose lesions of maximum intensity projection (MIP) in dynamic contrast-enhanced (DCE) breast magnetic resonance imaging (MRI). We retrospectively gathered MIPs of DCE...

  • Article
  • Open Access
14 Citations
4,935 Views
10 Pages

Costs of Providing HIV Self-Test Kits to Pregnant Women Living with HIV for Secondary Distribution to Male Partners in Uganda

  • Michelle A. Bulterys,
  • Andrew Mujugira,
  • Agnes Nakyanzi,
  • Miriam Nampala,
  • Geoffrey Taasi,
  • Connie Celum and
  • Monisha Sharma

Background: Secondary distribution of HIV self-testing kits (HIVST) to pregnant women attending antenatal care (ANC) clinics to give to their male partners is a promising strategy to increase testing coverage among men, but its costs are unknown. Met...

  • Article
  • Open Access
209 Citations
18,184 Views
15 Pages

Antibody Tests in Detecting SARS-CoV-2 Infection: A Meta-Analysis

  • Panagiota I. Kontou,
  • Georgia G. Braliou,
  • Niki L. Dimou,
  • Georgios Nikolopoulos and
  • Pantelis G. Bagos

The emergence of Coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 made imperative the need for diagnostic tests that can identify the infection. Although Nucleic Acid Test (NAT) is considered to be the gold standard, serological tests based o...

  • Article
  • Open Access
4 Citations
3,963 Views
8 Pages

Clinical Validation of Integrated Point-of-Care Devices for the Management of Non-Communicable Diseases

  • K. V. Giriraja,
  • Suman Govindaraj,
  • H. P. Chandrakumar,
  • Basanth Ramesh,
  • Licy Prasad,
  • B. R. Priyanka,
  • Samreen Shaikh,
  • Varun Rana,
  • Varun Trivedi and
  • Radha Rangarajan
  • + 2 authors

Non-communicable diseases are the leading cause of death and disability across India, including in the poorest states. Effective disease management, particularly for cardiovascular diseases, requires the tracking of several biochemical and physiologi...

  • Article
  • Open Access
20 Citations
4,751 Views
19 Pages

Diagnostic Value of Imaging Methods in the Histological Four Grading of Hepatocellular Carcinoma

  • Feiqian Wang,
  • Kazushi Numata,
  • Masayuki Nakano,
  • Mikiko Tanabe,
  • Makoto Chuma,
  • Hiromi Nihonmatsu,
  • Akito Nozaki,
  • Katsuaki Ogushi,
  • Wen Luo and
  • Shin Maeda
  • + 4 authors

We attempted to establish an ultrasound (US) imaging-diagnostic system for histopathological grades of differentiation of hepatocellular carcinoma (HCC). We conducted a retrospective study of histopathologically confirmed 200 HCCs, classified as earl...

  • Article
  • Open Access
7 Citations
4,634 Views
27 Pages

Cardio-Diagnostic Assisting Computer System

  • Galya Georgieva-Tsaneva,
  • Evgeniya Gospodinova,
  • Mitko Gospodinov and
  • Krasimir Cheshmedzhiev

The mathematical analysis and the assessment of heart rate variability (HRV) based on computer systems can assist the diagnostic process with determining the cardiac status of patients. The new cardio-diagnostic assisting computer system created uses...

  • Case Report
  • Open Access
6 Citations
4,484 Views
9 Pages

Thyroid-like low-grade nasopharyngeal papillary adenocarcinoma (TLLG-NPPA) is a distinctly rare malignancy of the nasopharynx. Morphologically and immunophenotypically, TLLG-NPPA resembles papillary thyroid carcinoma (PTC) and is characterized by a p...

  • Case Report
  • Open Access
9 Citations
5,025 Views
9 Pages

Thyrotoxic Periodic Paralysis—A Misleading Challenge in the Emergency Department

  • Stefana Bilha,
  • Ovidiu Mitu,
  • Laura Teodoriu,
  • Cristian Haba and
  • Cristina Preda

Despite its’ life-threatening potential due to cardiac severe dysrhythmia in the context of severe hypokalemia, thyrotoxic periodic paralysis (TPP) often goes unrecognized. Although classically confined to young Asian men, it can occur irrespec...

  • Article
  • Open Access
3 Citations
3,541 Views
14 Pages

Clustering and Kernel Density Estimation for Assessment of Measurable Residual Disease by Flow Cytometry

  • Hugues Jacqmin,
  • Bernard Chatelain,
  • Quentin Louveaux,
  • Philippe Jacqmin,
  • Jean-Michel Dogné,
  • Carlos Graux and
  • François Mullier

Standardization, data mining techniques, and comparison to normality are changing the landscape of multiparameter flow cytometry in clinical hematology. On the basis of these principles, a strategy was developed for measurable residual disease (MRD)...

  • Review
  • Open Access
42 Citations
6,222 Views
9 Pages

Cell-derived extracellular vesicles (EVs) can be isolated from various body fluids, including urine. Urinary EVs have gained important recognition as potential diagnostic biomarkers in renal disease since their cargo includes nucleic acids, proteins,...

  • Article
  • Open Access
21 Citations
4,489 Views
14 Pages

Biomarkers of Muscle Metabolism in Peripheral Artery Disease: A Dynamic NIRS-Assisted Study to Detect Adaptations Following Revascularization and Exercise Training

  • Fabio Manfredini,
  • Nicola Lamberti,
  • Valentina Ficarra,
  • Elpiniki Tsolaki,
  • Sofia Straudi,
  • Paolo Zamboni,
  • Nino Basaglia and
  • Vincenzo Gasbarro

We assessed whether muscle metabolism biomarkers (MMb) identified by near-infrared spectroscopy (NIRS) are valid for determining adaptations following revascularization or exercise training in peripheral artery disease (PAD). Eighteen patients (males...

  • Article
  • Open Access
12 Citations
4,688 Views
9 Pages

In recent years, several non-invasive methods have been developed for staging liver fibrosis in patients with chronic hepatitis C. A 2D-Shear wave elastography (SWE) technique has been recently introduced on the EPIQ 7 US system (ElastQ), but its acc...

  • Review
  • Open Access
76 Citations
12,365 Views
17 Pages

Current Data Regarding the Relationship between Type 2 Diabetes Mellitus and Cardiovascular Risk Factors

  • Cosmin Mihai Vesa,
  • Loredana Popa,
  • Amorin Remus Popa,
  • Marius Rus,
  • Andreea Atena Zaha,
  • Simona Bungau,
  • Delia Mirela Tit,
  • Raluca Anca Corb Aron and
  • Dana Carmen Zaha

Reducing cardiovascular risk (CVR) is the main focus of diabetes mellitus (DM) management nowadays. Complex pathogenic mechanisms that are the subject of this review lead to early and severe atherosclerosis in DM patients. Although it is not a cardio...

  • Article
  • Open Access
8 Citations
3,534 Views
12 Pages

Stage 4S neuroblastoma is a childhood cancer occurring in infants (<12 months at diagnosis) with metastases limited to liver, skin, and bone marrow (<10%). It is associated with an excellent outcome, due to its notable ability to undergo sponta...

  • Review
  • Open Access
30 Citations
5,851 Views
18 Pages

Biomarkers for Temporomandibular Disorders: Current Status and Future Directions

  • Abdalwhab Zwiri,
  • Mohammad A. I. Al-Hatamleh,
  • Wan Muhamad Amir W. Ahmad,
  • Jawaad Ahmed Asif,
  • Suan Phaik Khoo,
  • Adam Husein,
  • Zuryati Ab-Ghani and
  • Nur Karyatee Kassim

Numerous studies have been conducted in the previous years with an objective to determine the ideal biomarker or set of biomarkers in temporomandibular disorders (TMDs). It was recorded that tumour necrosis factor (TNF), interleukin 8 (IL-8), IL-6, a...

  • Article
  • Open Access
14 Citations
4,499 Views
20 Pages

Characterization of Stem-like Circulating Tumor Cells in Pancreatic Cancer

  • Lei Zhu,
  • Barbara Hissa,
  • Balázs Győrffy,
  • Johann-Christoph Jann,
  • Cui Yang,
  • Christoph Reissfelder and
  • Sebastian Schölch

Pancreatic ductal adenocarcinoma (PDAC) is the fourth most frequent cause of death from cancer. Circulating tumor cells (CTCs) with stem-like characteristics lead to distant metastases and thus contribute to the dismal prognosis of PDAC. Our purpose...

  • Article
  • Open Access
49 Citations
5,064 Views
12 Pages

Performance of Radiomics Features in the Quantification of Idiopathic Pulmonary Fibrosis from HRCT

  • Alessandro Stefano,
  • Mauro Gioè,
  • Giorgio Russo,
  • Stefano Palmucci,
  • Sebastiano Emanuele Torrisi,
  • Samuel Bignardi,
  • Antonio Basile,
  • Albert Comelli,
  • Viviana Benfante and
  • Carlo Vancheri
  • + 5 authors

Background: Our study assesses the diagnostic value of different features extracted from high resolution computed tomography (HRCT) images of patients with idiopathic pulmonary fibrosis. These features are investigated over a range of HRCT lung volum...

  • Article
  • Open Access
5 Citations
3,064 Views
8 Pages

Prostate artery embolization (PAE) is an emerging therapy for benign prostatic hyperplasia (BPH). Optimal patient selection is an important step when introducing new treatments and several characteristics associated with a good clinical outcome has p...

  • Review
  • Open Access
19 Citations
40,464 Views
15 Pages

Who Bites Me? A Tentative Discriminative Key to Diagnose Hematophagous Ectoparasites Biting Using Clinical Manifestations

  • Mohammad Akhoundi,
  • Denis Sereno,
  • Anthony Marteau,
  • Christiane Bruel and
  • Arezki Izri

Arthropod blood feeders are vectors of several human pathogenic agents, including viruses (e.g., yellow fever, chikungunya, dengue fever), parasites (e.g., malaria, leishmaniasis, lymphatic filariasis), or bacteria (e.g., plague). Besides their role...

  • Article
  • Open Access
22 Citations
4,200 Views
14 Pages

Using Machine Learning to Predict Bacteremia in Febrile Children Presented to the Emergency Department

  • Chih-Min Tsai,
  • Chun-Hung Richard Lin,
  • Huan Zhang,
  • I-Min Chiu,
  • Chi-Yung Cheng,
  • Hong-Ren Yu and
  • Ying-Hsien Huang

Blood culture is frequently used to detect bacteremia in febrile children. However, a high rate of negative or false-positive blood culture results is common at the pediatric emergency department (PED). The aim of this study was to use machine learni...

  • Case Report
  • Open Access
1 Citations
9,705 Views
7 Pages

Functional Magnetic Resonance Imaging in the Final Stage of Creutzfeldt-Jakob Disease

  • Stefan M. Golaszewski,
  • Bettina Wutzl,
  • Axel F. Unterrainer,
  • Cristina Florea,
  • Kerstin Schwenker,
  • Vanessa N. Frey,
  • Martin Kronbichler,
  • Frank Rattay,
  • Raffaele Nardone and
  • Eugen Trinka
  • + 2 authors

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare fatal degenerative disease of the central nervous system. The clinical course is characterized by rapid progression of neurological and neuromuscular symptoms. The late stage with loss of consciousn...

  • Article
  • Open Access
51 Citations
4,220 Views
16 Pages

Clinical Impact of Sarcopenia and Inflammatory/Nutritional Markers in Patients with Unresectable Metastatic Urothelial Carcinoma Treated with Pembrolizumab

  • Takuto Shimizu,
  • Makito Miyake,
  • Shunta Hori,
  • Kazuki Ichikawa,
  • Chihiro Omori,
  • Yusuke Iemura,
  • Takuya Owari,
  • Yoshitaka Itami,
  • Yasushi Nakai and
  • Kiyohide Fujimoto
  • + 3 authors

Sarcopenia is a muscle loss syndrome known as a risk factor of various carcinomas. The impact of sarcopenia and sarcopenia-related inflammatory/nutritional markers in metastatic urothelial carcinoma (mUC) treated with pembrolizumab was unknown, so th...

  • Article
  • Open Access
5 Citations
3,584 Views
12 Pages

Assessment of MRI-Based Attenuation Correction for MRI-Only Radiotherapy Treatment Planning of the Brain

  • Iiro Ranta,
  • Jarmo Teuho,
  • Jani Linden,
  • Riku Klén,
  • Mika Teräs,
  • Mika Kapanen and
  • Jani Keyriläinen

Magnetic resonance imaging-only radiotherapy treatment planning (MRI-only RTP) and positron emission tomography (PET)–MRI imaging require generation of synthetic computed tomography (sCT) images from MRI images. In this study, initial dosimetri...

  • Article
  • Open Access
10 Citations
4,037 Views
11 Pages

Optimization Protocol of Fixation Method for Trophoblast Retrieval from the Cervix (TRIC): A Preliminary Study

  • Min Jin Lee,
  • Soo Hyun Kim,
  • Sung Han Shim,
  • Hee Yeon Jang,
  • Hee Jin Park and
  • Dong Hyun Cha

Extravillous trophoblast cells (EVTs) secreted by the uterine cavity may help overcome limitations associated with prenatal testing currently in use. EVTs are isolated using a routine safe liquid-based Pap test (called ThinPrep); however, the ThinPre...

  • Review
  • Open Access
60 Citations
7,940 Views
13 Pages

Arthropod-borne viruses (arboviruses) belonging to the Flavivirus genus of the Flaviviridae family, are a major public health threat in tropical and subtropical regions, and have recently become a medical concern in temperate zones. Most flaviviruses...

  • Article
  • Open Access
13 Citations
4,143 Views
14 Pages

Serum and Echocardiographic Markers May Synergistically Predict Adverse Cardiac Remodeling after ST-Segment Elevation Myocardial Infarction in Patients with Preserved Ejection Fraction

  • Tamara Pecherina,
  • Anton Kutikhin,
  • Vasily Kashtalap,
  • Victoria Karetnikova,
  • Olga Gruzdeva,
  • Oksana Hryachkova and
  • Olga Barbarash

Improvement of risk scoring is particularly important for patients with preserved left ventricular ejection fraction (LVEF) who generally lack efficient monitoring of progressing heart failure. Here, we evaluated whether the combination of serum biom...

  • Article
  • Open Access
18 Citations
4,371 Views
11 Pages

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

  • Edyta Szymańska,
  • Patryk Lipiński,
  • Dariusz Rokicki,
  • Janusz Książyk and
  • Anna Tylki-Szymańska

Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III...

  • Article
  • Open Access
6 Citations
4,148 Views
13 Pages

Genetic Variants in the 3’UTR of BRCA1 and BRCA2 Genes and Their Putative Effects on the microRNA Mechanism in Hereditary Breast and Ovarian Cancer

  • María Marisela Sánchez-Chaparro,
  • Idalia Garza-Veloz,
  • Omar Alejandro Zayas-Villanueva,
  • Margarita L. Martinez-Fierro,
  • Iván Delgado-Enciso,
  • Mayra Alejandra Gomez-Govea,
  • Laura Elia Martínez-de-Villarreal,
  • Diana Reséndez-Pérez and
  • Iram Pablo Rodríguez-Sánchez

Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the BRCA1 and BRCA2 genes. The 3’UTR region allows for the binding of microRNAs, which are involved in genetic tune regulation. We aimed to identify allelic v...

  • Article
  • Open Access
12 Citations
3,550 Views
12 Pages

Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the...

  • Review
  • Open Access
14 Citations
6,491 Views
21 Pages

Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses

  • Rajendra Singh,
  • Shaileja Chopra,
  • Carrie Graham,
  • Melissa Langer,
  • Rainer Ng,
  • Anirudh J. Ullal and
  • Vamsee K. Pamula

Interest in newborn screening for mucopolysaccharidoses (MPS) is growing, due in part to ongoing efforts to develop new therapies for these disorders and new screening assays to identify increased risk for the individual MPSs on the basis of deficien...

  • Article
  • Open Access
23 Citations
4,219 Views
13 Pages

Combining Bioinformatics and Experiments to Identify CREB1 as a Key Regulator in Senescent Granulosa Cells

  • Pei-Hsuan Lin,
  • Li-Te Lin,
  • Chia-Jung Li,
  • Pei-Gang Kao,
  • Hsiao-Wen Tsai,
  • San-Nung Chen,
  • Zhi-Hong Wen,
  • Peng-Hui Wang and
  • Kuan-Hao Tsui

Aging of functional ovaries occurs many years before aging of other organs in the female body. In recent years, a greater number of women continue to postpone their pregnancies to later stages in their lives, raising concerns of the effect of ovarian...

  • Review
  • Open Access
77 Citations
16,855 Views
12 Pages

Saliva—Friend and Foe in the COVID-19 Outbreak

  • Pingping Han and
  • Sašo Ivanovski

The coronavirus disease 2019 (COVID-19) outbreak, caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global ongoing pandemic. Timely, accurate and non-invasive SARS-CoV-2 detection in both symptomatic and a...

  • Article
  • Open Access
12 Citations
7,953 Views
16 Pages

Elite VABB 13G: A New Ultrasound-Guided Wireless Biopsy System for Breast Lesions. Technical Characteristics and Comparison with Respect to Traditional Core-Biopsy 14–16G Systems

  • Daniele La Forgia,
  • Alfonso Fausto,
  • Gianluca Gatta,
  • Graziella Di Grezia,
  • Angela Faggian,
  • Annarita Fanizzi,
  • Daniela Cutrignelli,
  • Rosalba Dentamaro,
  • Vittorio Didonna and
  • Maria Antonietta Mazzei
  • + 3 authors

The typification of breast lumps with fine-needle biopsies is often affected by inconclusive results that extend diagnostic time. Many breast centers have progressively substituted cytology with micro-histology. The aim of this study is to assess the...

  • Article
  • Open Access
102 Citations
7,684 Views
26 Pages

Currently, mental stress is a common social problem affecting people. Stress reduces human functionality during routine work and may lead to severe health defects. Detecting stress is important in education and industry to determine the efficiency of...

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Diagnostics - ISSN 2075-4418