Multiple patterns of dyslexia in a shallow orthography: Principles for a diagnostic screening of developmental dyslexias

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

Download Full-text

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

Scientific Reports ◽

10.1038/s41598-019-50798-6 ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 1

Author(s):

Do Hyeon Cha ◽

Heon Yung Gee ◽

Raul Cachau ◽

Jong Mun Choi ◽

Daeui Park ◽

...

Keyword(s):

Genetic Diagnosis ◽

Kidney Injury ◽

Genetic Identification ◽

Diagnostic Screening ◽

Renal Hypouricemia ◽

Pathogenic Variants ◽

Whole Exome ◽

Causal Variants ◽

Coding Variants ◽

Independent Cohort

Abstract Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for genetic diagnosis using two founder variants in primary screening. We selected all cases (N = 31) with extreme hypouricemia (<1.3 mg/dl) from a Korean urban cohort of 179,381 subjects without underlying conditions. WES and corresponding downstream analyses were performed for the discovery of rare causal variants for hypouricemia. Two known recessive variants within SLC22A12 (p.Trp258*, pArg90His) were identified in 24 out of 31 subjects (77.4%). In an independent cohort, we identified 50 individuals with hypouricemia and genotyped the p.Trp258* and p.Arg90His variants; 47 of the 50 (94%) hypouricemia cases were explained by only two mutations. Four novel coding variants in SLC22A12, p.Asn136Lys, p.Thr225Lys, p.Arg284Gln, and p.Glu429Lys, were additionally identified. In silico studies predict these as pathogenic variants. This is the first study to show the value of genetic diagnostic screening for hypouricemia in the clinical setting. Screening of just two ethnic-specific variants (p.Trp258* and p.Arg90His) identified 87.7% (71/81) of Korean patients with monogenic hypouricemia. Early genetic identification of constitutive hypouricemia may prevent acute kidney injury by avoidance of dehydration and excessive exercise.

Download Full-text

Screening, Diagnostic and Prognostic Tests for COVID-19: A Comprehensive Review

Life ◽

10.3390/life11060561 ◽

2021 ◽

Vol 11 (6) ◽

pp. 561

Author(s):

Mariana Ulinici ◽

Serghei Covantev ◽

James Wingfield-Digby ◽

Apostolos Beloukas ◽

Alexander G. Mathioudakis ◽

...

Keyword(s):

Point Of Care ◽

Standard Test ◽

Current Evidence ◽

Molecular Testing ◽

Rt Pcr ◽

Diagnostic Screening ◽

Comprehensive Review ◽

Prognostic Tests ◽

Polymerase Chain ◽

Antigen Testing

While molecular testing with real-time polymerase chain reaction (RT-PCR) remains the gold-standard test for COVID-19 diagnosis and screening, more rapid or affordable molecular and antigen testing options have been developed. More affordable, point-of-care antigen testing, despite being less sensitive compared to molecular assays, might be preferable for wider screening initiatives. Simple laboratory, imaging and clinical parameters could facilitate prognostication and triage. This comprehensive review summarises current evidence on the diagnostic, screening and prognostic tests for COVID-19.

Download Full-text

Current state of Diagnostic, Screening and Surveillance Testing Methods for COVID-19 from an Analytical Chemistry Point of View

Microchemical Journal ◽

10.1016/j.microc.2021.106305 ◽

2021 ◽

pp. 106305

Author(s):

Julia Martín ◽

Noelia Tena ◽

Agustin G. Asuero

Keyword(s):

Analytical Chemistry ◽

Point Of View ◽

Testing Methods ◽

Diagnostic Screening ◽

Current State ◽

Screening And Surveillance

Download Full-text

A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome

Chemical Science ◽

10.1039/d0sc04696e ◽

2020 ◽

Vol 11 (47) ◽

pp. 12671-12676

Author(s):

Markus Schwarz ◽

Philipp Skrinjar ◽

Michael J. Fink ◽

Stefan Kronister ◽

Thomas Mechtler ◽

...

Keyword(s):

Hunter Syndrome ◽

Diagnostic Screening ◽

Enzyme Substrate

Click-triggered flip of the conformation of a sulfated iduronyl azide afforded a superior enzyme substrate to screen for Hunter syndrome.

Download Full-text

Clinically applicable machine learning approaches to identify attributes of Chronic Kidney Disease (CKD) for use in low-cost diagnostic screening

IEEE Journal of Translational Engineering in Health and Medicine ◽

10.1109/jtehm.2021.3073629 ◽

2021 ◽

pp. 1-1

Author(s):

Md. Rashed-Al-Mahfuz ◽

Abedul Haque ◽

AKM Azad ◽

Salem A. Alyami ◽

Julian M.W. Quinn ◽

...

Keyword(s):

Machine Learning ◽

Chronic Kidney Disease ◽

Kidney Disease ◽

Low Cost ◽

Learning Approaches ◽

Diagnostic Screening

Download Full-text

The Pivotal Player: Components of NF-κB Pathway as Promising Biomarkers in Colorectal Cancer

International Journal of Molecular Sciences ◽

10.3390/ijms22147429 ◽

2021 ◽

Vol 22 (14) ◽

pp. 7429

Author(s):

Matthew Martin ◽

Mengyao Sun ◽

Aishat Motolani ◽

Tao Lu

Keyword(s):

Colorectal Cancer ◽

Biological Response ◽

Significant Progress ◽

Therapeutic Approaches ◽

Successful Development ◽

Diagnostic Screening ◽

Proteomic Data ◽

Large Groups ◽

Made In

Over the last several decades, colorectal cancer (CRC) has been one of the most prevalent cancers. While significant progress has been made in both diagnostic screening and therapeutic approaches, a large knowledge gap still remains regarding the early identification and treatment of CRC. Specifically, identification of CRC biomarkers that can help with the creation of targeted therapies as well as increasing the ability for clinicians to predict the biological response of a patient to therapeutics, is of particular importance. This review provides an overview of CRC and its progression stages, as well as the basic types of CRC biomarkers. We then lay out the synopsis of signaling pathways related to CRC, and further highlight the pivotal and multifaceted role of nuclear factor (NF) κB signaling in CRC. Particularly, we bring forth knowledge regarding the tumor microenvironment (TME) in CRC, and its complex interaction with cancer cells. We also provide examples of NF-κB signaling-related CRC biomarkers, and ongoing efforts made at targeting NF-κB signaling in CRC treatment. We conclude and anticipate that with more emerging novel regulators of the NF-κB pathway being discovered, together with their in-depth characterization and the integration of large groups of genomic, transcriptomic and proteomic data, the day of successful development of more ideal NF-κB inhibitors is fast approaching.

Download Full-text