scholarly journals Inherited Proteoglycan Biosynthesis Defects—Current Laboratory Tools and Bikunin as a Promising Blood Biomarker

Genes ◽  
2021 ◽  
Vol 12 (11) ◽  
pp. 1654
Author(s):  
Walid Haouari ◽  
Johanne Dubail ◽  
Christian Poüs ◽  
Valérie Cormier-Daire ◽  
Arnaud Bruneel
Keyword(s):  
Laboratory Tests ◽  
Clinical Symptoms ◽  
Extracellular Matrices ◽  
Gene Variants ◽  
Orphan Diseases ◽  
Biochemical Screening ◽  
Blood Biomarkers ◽  
Inborn Errors ◽  
Sulfated Glycosaminoglycan ◽  
Blood Biomarker

Proteoglycans consist of proteins linked to sulfated glycosaminoglycan chains. They constitute a family of macromolecules mainly involved in the architecture of organs and tissues as major components of extracellular matrices. Some proteoglycans also act as signaling molecules involved in inflammatory response as well as cell proliferation, adhesion, and differentiation. Inborn errors of proteoglycan metabolism are a group of orphan diseases with severe and irreversible skeletal abnormalities associated with multiorgan impairments. Identifying the gene variants that cause these pathologies proves to be difficult because of unspecific clinical symptoms, hardly accessible functional laboratory tests, and a lack of convenient blood biomarkers. In this review, we summarize the molecular pathways of proteoglycan biosynthesis, the associated inherited syndromes, and the related biochemical screening techniques, and we focus especially on a circulating proteoglycan called bikunin and on its potential as a new biomarker of these diseases.

scholarly journals Distinct epigenetic signatures between adult-onset and late-onset depression

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Hirotaka Yamagata ◽  
Hiroyuki Ogihara ◽  
Koji Matsuo ◽  
Shusaku Uchida ◽  
Ayumi Kobayashi ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Bisulfite Sequencing ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Adult Onset ◽  
Blood Biomarkers ◽  
Major Depressive ◽  
Genome Wide ◽  
Healthy Control ◽  
Epigenetic Signatures

AbstractThe heterogeneity of major depressive disorder (MDD) is attributed to the fact that diagnostic criteria (e.g., DSM-5) are only based on clinical symptoms. The discovery of blood biomarkers has the potential to change the diagnosis of MDD. The purpose of this study was to identify blood biomarkers of DNA methylation by strategically subtyping patients with MDD by onset age. We analyzed genome-wide DNA methylation of patients with adult-onset depression (AOD; age ≥ 50 years, age at depression onset < 50 years; N = 10) and late-onset depression (LOD; age ≥ 50 years, age at depression onset ≥ 50 years; N = 25) in comparison to that of 30 healthy subjects. The methylation profile of the AOD group was not only different from that of the LOD group but also more homogenous. Six identified methylation CpG sites were validated by pyrosequencing and amplicon bisulfite sequencing as potential markers for AOD in a second set of independent patients with AOD and healthy control subjects (N = 11). The combination of three specific methylation markers achieved the highest accuracy (sensitivity, 64%; specificity, 91%; accuracy, 77%). Taken together, our findings suggest that DNA methylation markers are more suitable for AOD than for LOD patients.

scholarly journals Modern Diagnosis of Early Esophageal Cancer: From Blood Biomarkers to Advanced Endoscopy and Artificial Intelligence

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3162
Author(s):  
Pierfrancesco Visaggi ◽  
Brigida Barberio ◽  
Matteo Ghisa ◽  
Mentore Ribolsi ◽  
Vincenzo Savarino ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Esophageal Cancer ◽  
Clinical Symptoms ◽  
Survival Rates ◽  
Screening Strategy ◽  
Cancer Surveillance ◽  
Blood Biomarkers ◽  
Early Esophageal Cancer ◽  
Novel Technologies ◽  
Bolus Impaction

Esophageal cancer (EC) is the seventh most common cancer and the sixth cause of cancer death worldwide. Histologically, esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) account for up to 90% and 20% of all ECs, respectively. Clinical symptoms such as dysphagia, odynophagia, and bolus impaction occur late in the natural history of the disease, and the diagnosis is often delayed. The prognosis of ESCC and EAC is poor in advanced stages, being survival rates less than 20% at five years. However, when the diagnosis is achieved early, curative treatment is possible, and survival exceeds 80%. For these reasons, mass screening strategies for EC are highly desirable, and several options are currently under investigation. Blood biomarkers offer an inexpensive, non-invasive screening strategy for cancers, and novel technologies have allowed the identification of candidate markers for EC. The esophagus is easily accessible via endoscopy, and endoscopic imaging represents the gold standard for cancer surveillance. However, lesion recognition during endoscopic procedures is hampered by interobserver variability. To fill this gap, artificial intelligence (AI) has recently been explored and provided encouraging results. In this review, we provide a summary of currently available options to achieve early diagnosis of EC, focusing on blood biomarkers, advanced endoscopy, and AI.

scholarly journals Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

2021 ◽  
Vol 7 (1) ◽  
pp. 18
Author(s):  
Christiane Auray-Blais ◽  
Michel Boutin ◽  
Pamela Lavoie ◽  
Bruno Maranda
Keyword(s):  
Mass Spectrometry ◽  
Thin Layer ◽  
Thin Layer Chromatography ◽  
Clinical Symptoms ◽  
Screening Program ◽  
Compliance Rate ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Urine Screening ◽  
Layer Chromatography

The Quebec Neonatal Urine Screening Program was initiated in 1971 with overall screening inception of newborns in 1973. Forty-seven years later, over 3.5 million babies have been screened for up to 25 inborn errors of metabolism divided into two groups: (1) urea cycle disorders and organic acidurias; and (2) disorders of amino acid metabolism and transport. The main goal of this preventive genetic medicine program is the detection of treatable diseases before the onset of clinical symptoms. Urine specimens from 21-day-old babies are collected and dried on filter paper by parents at home. The participation is voluntary with a high compliance rate over the years (~90%). Specimens are analyzed by thin layer chromatography (TLC). The main objective of this evaluative research project was to assess the feasibility of a technological upgrade towards mass spectrometry. A 2.85-min flow injection method was devised, normal values established, and abnormal profiles confirmed using second-tier tests. The validated assays are sensitive, specific, and suitable for populational screening, as well as for high-risk screening laboratories. Triple H syndrome, which would not be detected in newborns by blood screening at two days of age was found to be positive in the urine of an affected patient.

Wrodzony niedobór biotynidazy o późnym początku – opis przypadku

2018 ◽  
Vol 22 (2) ◽  
Author(s):  
Milena Lubowicz ◽  
Magdalena Łukasik ◽  
Katarzyna Dylewska ◽  
Andrzej Kurylak
Keyword(s):  
Hearing Loss ◽  
Initial Phase ◽  
Laboratory Tests ◽  
Clinical Symptoms ◽  
Late Onset ◽  
Carrier State ◽  
Biotinidase Deficiency ◽  
Psychomotor Development ◽  
Chromosome 3 ◽  
Biotinidase Activity

Biotinidase deficiency is a genetically conditioned congenital disorder of biotin metabolism. The disease is caused by mutations in the BTD-3p25 gene, located on the short strand of chromosome 3. The BTD gene conditions proper biotinidase synthesis. So far, approximately 150 mutations of this gene have been identified. The incidence proportion is one case per 61 000 births, and the carrier state – one case per 120 births. Biotin (vit. H, B7) is essential in numerous metabolic processes. The initial phase of the disease can be acute, chronic including exacerbations/remissions, progressive, and the symptoms can appear at any age. The diagnosis of patients with late-onset disease is particularly difficult, since the symptoms suggest disorders of different nature, especially neurologic. The diagnosis is based on the analysis of clinical symptoms and laboratory tests, including biotinidase activity. The supplementation of biotin is the treatment of choice. It leads to rapid resolution of symptoms and can protect against permanent consequences of the disease such as optic atrophy, hearing loss or retarded psychomotor development.

Phenylketonuria—1986

1986 ◽  
Vol 7 (9) ◽  
pp. 269-275
Author(s):  
Harvey L. Levy
Keyword(s):  
Metabolic Disorders ◽  
Genetic Disorder ◽  
Newborn Infants ◽  
Biochemical Screening ◽  
Clinical Expression ◽  
Inborn Errors ◽  
Biochemical Basis ◽  
Phenylalanine Level ◽  
Phenylalanine Metabolism ◽  
The Many

Phenylketonuria (PKU) has been aptly described as the "epitome of human biochemical genetics." In so distinguishing PKU among the many metabolic disorders now known, Scriver and Clow identified several categories in which this inborn error of metabolism is singularly prominent. First and foremost, PKU represents a fusion of effort between public health and genetics. It is the major genetic disorder in which treatment can prevent the clinical expression of disease and for which routine biochemical screening of newborn infants was developed. It remains the model for such screening. Second, PKU is the prime example of the importance of understanding as completely as possible the biochemical basis of a metabolic disorder. The detailed understanding of phenylalanine metabolism that arose from studies spawned by PKU led to the recognition of "new" metabolic disorders that relate to PKU in their capacity to increase the phenylalanine level but that involve a different category of metabolism and require very different treatment. Third, PKU represents an important link between obstetrics and pediatrics. The threat to the fetus from PKU in the pregnant woman (maternal PKU) must be met by special dietary care throughout the pregnancy. This is, perhaps, only the first of other maternal inborn errors that will require similar intervention during pregnancy.

scholarly journals Inborn Errors of Metabolism-Clinical Findings and Laboratory Tests at the Children’s Medical Center, Tehran, Iran

2016 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Farzaneh Abbasi ◽  
Aria Setoodeh ◽  
Fatemeh Sayarifard ◽  
Parastoo Rostami ◽  
Ali Rabbani
Keyword(s):  
Laboratory Tests ◽  
Inborn Errors Of Metabolism ◽  
Medical Center ◽  
Clinical Findings ◽  
Inborn Errors

Disorders of Creatine Metabolism

2016 ◽  
Author(s):  
David Cheillan ◽  
Frédéric Sedel
Keyword(s):  
Language Impairment ◽  
Body Fluid ◽  
Inborn Errors Of Metabolism ◽  
Clinical Symptoms ◽  
Creatine Supplementation ◽  
Speech Delay ◽  
Inborn Errors ◽  
Creatine Transporter ◽  
Creatine Metabolism ◽  
Early Diagnostic

Creatine is a physiological guanidino compound playing a major role in energy metabolism in muscle and implicated in neurotransmission in brain. The three disorders of creatine metabolism (AGAT and GAMT deficiencies and the X-linked creatine transporter defect) are a group of inborn errors of metabolism characterized by a depletion of creatine that could be easily diagnosed by mesasurement of guanidinoacetate and creatine in body fluid or cranial MRS spectroscopy. The main clinical features of these paediatric disorders are intellectual disability and speech delay and some adult patients have been described with severe language impairment and mental retardation. Although the X-linked creatine transporter defect is currently not treatable, the clinical symptoms of the two disorders of creatine synthesis should be improved by creatine supplementation emphasizing the importance of an early diagnostic.

scholarly journals Combination of clinical symptoms and blood biomarkers can improve discrimination between bacterial or viral community-acquired pneumonia in children

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Mejbah U. Bhuiyan ◽  
Christopher C. Blyth ◽  
Rachel West ◽  
Jurissa Lang ◽  
Tasmina Rahman ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Community Acquired Pneumonia ◽  
Blood Biomarkers ◽  
Viral Community

A Patient with COVID-19 Pneumonia Presenting with Plural Effusion: A Case Report.

2020 ◽  
Vol 20 ◽  
Author(s):  
Fereshteh Ghiasvand ◽  
SeyedAhmad SeyedAlinaghi ◽  
Samaneh Tirgar ◽  
Mohamad Reza Salehi ◽  
Banafsheh Moradmand-Badie
Keyword(s):  
Case Report ◽  
Pleural Effusion ◽  
Clinical Features ◽  
Laboratory Tests ◽  
Clinical Symptoms ◽  
Referral Hospital ◽  
Emergency Unit

: In February 2020, coronavirus disease (COVID-19) emerged in Tehran, Iran. Herein, we reported clinical features, laboratory tests, unusual radiological characteristics and therapeutic course of a patient with initial mild clinical symptoms at presentation with progression to pneumonia and pleural effusion in emergency unit of a referral hospital.

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