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Role of Tandem Mass Spectrometry in Diagnosis and Management of Inborn Errors of Metabolism
Published in P. Mereena Luke, K. R. Dhanya, Didier Rouxel, Nandakumar Kalarikkal, Sabu Thomas, Advanced Studies in Experimental and Clinical Medicine, 2021
Kannan Vaidyanathan, Sandhya Gopalakrishnan
Unprocessed oligosaccharides and glycoconjugates were detected in urine in patients with glycoproteinosis, Pompe’s disease and sialic acid storage diseases by MALDI-TOF-MS [81]. Urinary analysis of free oligosaccharides by MALDI/TOF/TOF aids the diagnosis of lysosomal storage disorders [82]. Using label-free quantitative proteomics, two potential markers, prosaposin, and GM2 activator protein (GM2AP), were identified in urine of pediatric patients for pre-symptomatic kidney disease in Type I diabetes and Fabry disease [83]. An LC-MS/MS method for the simultaneous determination of homovanillic acid, VMA, orotic acid and homogentisic acid in urine has been developed [84]. Acylglycines are important metabolites for the diagnosis of a number of IEM. A UPLC/MS method was developed for the assay of acylglycines in urine samples [85]. Urinary steroids were analyzed in patients with 21 hydroxylase deficiency by GC-MS/MS. Many novel steroids some of which may be used as biomarkers were identified [86]. Large number of putative IEM markers was identified in urine by ESI-MS/MS technique by Rebollido-Fernandez et al. [87]. An analytical method for the detection of pterins in urine for the identification of both typical and atypical PKU has been described [88].
Gilles de la Tourette’s syndrome
Published in David Enoch, Basant K. Puri, Hadrian Ball, Uncommon Psychiatric Syndromes, 2020
David Enoch, Basant K. Puri, Hadrian Ball
Recently attention has focussed on neurochemical processes that may mediate the disorder’s symptomatology at the cerebral level. Essentially it is postulated that the clinical features arise as a result of an imbalance in cerebral neurotransmitters, particularly dopamine (Chase et al., 1986). The basis for this hypothesis lies in the fact that haloperidol, a dopamine antagonist, suppresses the various symptoms, whereas an agent such as methylphenidate, a dopamine agonist, tends to exacerbate the symptoms. Further support comes from the finding of abnormal levels of homovanillic acid (a metabolite of dopamine) in the CSF of some patients.
Lesch–Nyhan disease and variants
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Levels of homovanillic acid (HVA) in the spinal fluid were found to be low [76]. Studies of PET with ligands specific for targets in the basal ganglia revealed reduction in binding to dopamine uptake transporters by 73 percent in the putamen and 56 percent in the caudate [77]. Another study showed over 60 percent reduction in fluorodopa uptake [78]. Further evidence for neurotransmitter imbalance was the transient cessation of self-injurious behavior following treatment with the serotonin precursor, 5-hydroxytryptophan with carbidopa [79].
The effect of acid use as a preservative on the results of biochemical tests measured in 24-h urine
Published in Scandinavian Journal of Clinical and Laboratory Investigation, 2022
Ceylan Bal, Canan Topcuoğlu, Ahmet Rıfat Balık, Fatma Meriç Yılmaz, Özcan Erel, Gülsen Yılmaz
In this study, we compared the sodium, potassium, chloride, glucose, amylase, calcium, creatinine, phosphorus, microalbumin, protein, magnesium, urea, uric acid, adrenaline, noradrenaline, dopamine, metanephrine, normetanephrine, vanillylmandelic acid (VMA), 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA) results of 24-h urine samples analyzed immediately without acid addition, which we accepted as the reference and baseline measurement, with the results of the samples analyzed after waiting for 24 h without acid addition, analyzed immediately with acid addition and analyzed after waiting for 24 h with acid addition. Thus, we aimed to investigate different 24 h-urine collection approaches, which are still a concern, in the 24-h urine collection process such as the necessity and timing of acid added as a preservative specifically for high-demand analytes measured in 24-h urine samples.
Association study of Catechol-O-Methyltransferase (COMT) rs4680 Val158Met gene polymorphism and suicide attempt in Mexican adolescents with major depressive disorder
Published in Nordic Journal of Psychiatry, 2022
Marco Antonio Sanabrais-Jiménez, Alejandro Aguilar-García, Sandra Hernández-Muñoz, Emmanuel Sarmiento, Rosa E. Ulloa, Anabel Jiménez-Anguiano, Beatriz Camarena
The serotonergic system was first implicated in the etiology of suicidal behavior, which supported the findings of low 5-hydroxyindoleacetic acid in the cerebrospinal fluid in suicide subjects [7]. An independent association has been reported with a low serotonergic activity between suicidal behavior and major depressive disorder [8]. It was reported differences in binding values of several serotonin receptor subtypes and serotonin transporter in the brain of suicide victims compared with non-suicidal victims [9]. Furthermore, the catecholaminergic system has been linked to suicidal behavior based on reports showing low homovanillic acid levels in cerebrospinal fluid of depressed patients with a history of SA [10,11]. Also, low levels of 3-methoxy-4-hydroxyphenylglycol, a metabolite of norepinephrine, were detected in SA subjects [12]. The neurobiological findings suggest that genes related to serotonergic and catecholaminergic systems are involved in the development of SA.
EWSR1(22q12) Translocation Positive Pediatric Adrenal Tumor with Loss of 1p, 11q, and Unbalanced Gain of 17q: Neuroblastoma or Ewing Sarcoma?
Published in Fetal and Pediatric Pathology, 2021
Mehmet Azizoglu, Ugur Demirsoy, Ibrahim Kulac, Safiye Aktas, Funda Çorapcioglu
This 3 year-old girl presented with abdominal pain, distention and weakness. Physical examination was normal except abdominal distention and tenderness. No sign of any paraneoplastic symptom was observed. Her complete blood count was normal for her age. Biochemical analysis of serum showed; urea: 16 mg/dL (normal range 5–17 mg/dL), creatinine: 0.25 mg/dL (normal range 0.2–0.7 mg/dL), alanine aminotransferase: 17 U/L (normal range <50 U/L), aspartate aminotransferase: 38 U/L (normal range <50 U/L), neuron specific enolase (NSE): 46.9 ng/mL (normal range <25 ng/mL) and vanillylmandelic acid: 11.7 mg/g (normal range <27 mg/g). We could not study urinary homovanillic acid level due to technical problems. A heterogeneous hypoechoic solid mass with areas of calcification located on the superior pole of right kidney was visualized on ultrasound. Magnetic resonance imaging (MRI) of abdomen revealed a mass (52 mm × 50 mm × 75 mm) with spinal cord invasion and also displacing the right kidney (Figure 1). We could not perform 123I-MIBG scintigraphy due to technical problems.