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  1. Article ; Online: Low vitamin D status is associated with inflammatory response in older patients with cerebral small vessel disease.

    Supriya, Manjunath / Christopher, Rita / Prabhakar, Puttachandra / Chandra, Sadanandavalli Retnaswami

    Journal of neuroimmunology

    2023  Volume 377, Page(s) 578057

    Abstract: Objectives: This study aimed to determine the association of the NF-κB inflammatory signaling pathway with vitamin D status in older cerebral small vessel disease (SVD) patients.: Methods: We measured serum 25(OH)D, pro-and anti-inflammatory ... ...

    Abstract Objectives: This study aimed to determine the association of the NF-κB inflammatory signaling pathway with vitamin D status in older cerebral small vessel disease (SVD) patients.
    Methods: We measured serum 25(OH)D, pro-and anti-inflammatory cytokines, and mRNA levels of the vitamin D-activating enzyme, CYP27B1, as well as NF-kB, COX-2, the chemokine-CCL2, IL-1β, IL-6, TNF-α, TGF-β, and IL-10, in cerebral SVD patients aged ≥60 years presenting with vascular dementia and age and gender-matched healthy controls.
    Results: Low vitamin D status (insufficiency: serum 25(OH)D 12-20 ng/ml; deficiency: ≤12 ng/ml) was more prevalent among patients compared to controls. The mRNA levels of NF-kB, COX-2, CCL2, IL-1β, and IL-6, and serum levels of pro-inflammatory cytokines (IL-1α, IL-1β, IL-6, and TNF-α) were significantly higher in cases compared to controls. There was a significant correlation between CYP27B1 and NF-kB, COX-2, CCL2, and IL-1β gene expression. Serum IL-1α, IL-1β, and IL-6 concentrations and the expression of CCL-2, NF-kB2, and NF-kB3 genes were higher in vitamin D-deficient subjects compared to vitamin D-sufficient subjects. There was a significant negative correlation between serum 25(OH)D and IL-1α, IL-6, and TNF-α, and a positive correlation between 25(OH)D and IL-10.
    Conclusion: Low vitamin D is associated with an inflammatory response via NF-kB signaling, which could play a role in the etio-pathogenesis of SVD. Further large-scale studies are required to validate our findings.
    MeSH term(s) Humans ; Aged ; Interleukin-10 ; NF-kappa B/metabolism ; Tumor Necrosis Factor-alpha ; Interleukin-6 ; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics ; Cyclooxygenase 2/genetics ; Vitamin D ; Vitamin D Deficiency ; Cytokines/genetics ; Cerebral Small Vessel Diseases ; RNA, Messenger
    Chemical Substances Interleukin-10 (130068-27-8) ; NF-kappa B ; Tumor Necrosis Factor-alpha ; Interleukin-6 ; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase (EC 1.14.15.18) ; Cyclooxygenase 2 (EC 1.14.99.1) ; Vitamin D (1406-16-2) ; Cytokines ; RNA, Messenger
    Language English
    Publishing date 2023-03-09
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 8335-5
    ISSN 1872-8421 ; 0165-5728
    ISSN (online) 1872-8421
    ISSN 0165-5728
    DOI 10.1016/j.jneuroim.2023.578057
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  2. Article ; Online: From Clinical Trials to Practice: Anticipating and Overcoming Challenges in Implementing Watch-and-Wait for Rectal Cancer.

    Loria, Anthony / Ramsdale, Erika E / Aquina, Christopher T / Cupertino, Paula / Mohile, Supriya G / Fleming, Fergal J

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology

    2024  Volume 42, Issue 8, Page(s) 876–880

    MeSH term(s) Humans ; Chemoradiotherapy ; Neoadjuvant Therapy ; Neoplasm Recurrence, Local/drug therapy ; Rectal Neoplasms/drug therapy ; Treatment Outcome ; Watchful Waiting ; Clinical Trials as Topic
    Language English
    Publishing date 2024-02-05
    Publishing country United States
    Document type Journal Article
    ZDB-ID 604914-x
    ISSN 1527-7755 ; 0732-183X
    ISSN (online) 1527-7755
    ISSN 0732-183X
    DOI 10.1200/JCO.23.01369
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  3. Article: Clinicobiochemical Profile and Outcome of Children with Small Molecule Neurometabolic Disorders: A Tertiary Care Hospital Experience from India

    Banerjee, Bidisha / Shinde, Supriya / Christopher, Rita / Acharya, Ullas

    Journal of Pediatric Neurology

    2024  

    Abstract: Inborn Errors of Metabolism (IEM), though heterogenous, are not uncommon. Neurologic manifestations predominate. Without universal newborn screening, early diagnosis and treatment may lessen neuromorbidity. Hence, this study was done to understand small ... ...

    Abstract Inborn Errors of Metabolism (IEM), though heterogenous, are not uncommon. Neurologic manifestations predominate. Without universal newborn screening, early diagnosis and treatment may lessen neuromorbidity. Hence, this study was done to understand small molecule neurometabolic disorders' presentation, diagnostic clues, and outcome. Small molecule neurometabolic disorder was diagnosed in 45 children (postneonatal onset) over 14 years (2008–2022) in a tertiary care hospital. Clinical and laboratory data were retrospectively analyzed. There were 26 boys and 19 girls. The median age at diagnosis was 19 months (interquartile range [IQR] 8–38 months). The median diagnostic delay was 12 months in chronic encephalopathy (IQR 1–24 months) and 1 month (IQR 0.2–5.5 months) in the acute encephalopathy group ( p ≤ 0.01). The presentation mode was chronic encephalopathy/myopathy in 29 (64.4%) and acute encephalopathy in 11 (24.4%). Diagnostic clues included unexplained developmental delay ( n  = 27, 60%), tone abnormalities ( n  = 26, 57.7%), movement disorder and ataxia ( n  = 16, 35.5%), acute encephalopathy ( n  = 11, 24.4%), neuroregression ( n  = 10, 22.2%), macrocephaly ( n  = 10, 22.2%), and alopecia ( n  = 4, 8.9%). Diagnostic/suggestive blood-spot tandem mass spectrometry (TMS) was seen in 34/38 (89.5%) children. Neuroimaging helped clinch the diagnosis in 17 (47%) children. Diagnostic categories were organic acidemias ( n  = 25, 55.6%), urea cycle disorders ( n  = 11, 24.4%), aminoacidopathies ( n  = 5, 11.1%), and fatty acid oxidation disorders ( n  = 4, 8.9%). The neurodevelopmental outcome was normal in 13 (28.8%), mild delay in 12 (26.6%), severe delay in 11 (24.4%), 3 deaths (6.6%), and 6 (13.3%) children being lost to follow-up. Overall, the outcome was favorable in 55% of cases. Unexplained developmental delay with tone abnormalities with or without movement disorders is a joint presentation of late-onset neurometabolic diseases. Neuroimaging studies and laboratory tests like blood-spot TMS help identify many small molecule disorders.
    Keywords encephalopathy ; inborn errors of metabolism ; neuroimage ; neurometabolic ; tandem mass spectrometry
    Language English
    Publishing date 2024-03-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 1875-9041 ; 1304-2580
    ISSN (online) 1875-9041
    ISSN 1304-2580
    DOI 10.1055/s-0044-1778706
    Database Thieme publisher's database

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  4. Article: COVID-19: No Guaranteed Protection from Future Infection after the Initial Diagnosis.

    Chew, Christopher / Mannepalli, Supriya

    Case reports in infectious diseases

    2021  Volume 2021, Page(s) 6617719

    Abstract: The world of microbiology is vast in nature, and viruses continue to be a subset containing a lot of unknowns. Initial infection with certain viruses, such as varicella zoster virus and measles, allows for development of lifelong immunity; on the other ... ...

    Abstract The world of microbiology is vast in nature, and viruses continue to be a subset containing a lot of unknowns. Initial infection with certain viruses, such as varicella zoster virus and measles, allows for development of lifelong immunity; on the other hand, the influenza virus requires yearly vaccination, which may not provide adequate immunity. This can be attributed to antigenic shift and drift, rendering previously made antibodies ineffective against new strains of influenza. This article describes six cases of patients who presented with mild acute respiratory symptoms and tested positive for COVID-19 virus. After recovering from initial illness and being asymptomatic for several months, they developed recurrence of acute respiratory symptoms and, again, tested positive for COVID-19 virus, in more severe form than initial presentation. In the current state of the world, COVID-19 has created a lot of unknowns in the medical community, including patient presentation and treatment. COVID-19 research is evolving daily, but many questions remained unanswered. "Will a sufficient antibody response be created by the human body in those infected with COVID-19 and how long will that immunity last?" "Will antigenic drift occur quickly allowing the virus to evade previously made antibodies?" During initial surveillance of the COVID-19 virus, we were expecting development of an immune response comparable to SARS-CoV-1 and MERS-CoV, given the viral similarities. Unfortunately, based on our observations, this may not necessarily be true and will be further discussed in the presented article.
    Language English
    Publishing date 2021-03-30
    Publishing country Egypt
    Document type Case Reports
    ZDB-ID 2627642-2
    ISSN 2090-6633 ; 2090-6625
    ISSN (online) 2090-6633
    ISSN 2090-6625
    DOI 10.1155/2021/6617719
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Phylogenomic analysis of the genus

    Bhat, Supriya V / Maughan, Heather / Cameron, Andrew D S / Yost, Christopher K

    Microbial genomics

    2022  Volume 8, Issue 9

    Abstract: ... ...

    Abstract Delftia
    MeSH term(s) Animals ; DNA, Bacterial/genetics ; Delftia/genetics ; Humans ; Metals, Heavy ; Phylogeny ; Sequence Analysis, DNA ; Sewage ; Soil
    Chemical Substances DNA, Bacterial ; Metals, Heavy ; Sewage ; Soil
    Language English
    Publishing date 2022-10-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2835258-0
    ISSN 2057-5858 ; 2057-5858
    ISSN (online) 2057-5858
    ISSN 2057-5858
    DOI 10.1099/mgen.0.000864
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Extramedullary Multiple Myeloma: A Patient-Focused Review of the Pathogenesis of Bone Marrow Escape.

    Gupta, Supriya / Master, Samip / Graham, Christopher

    World journal of oncology

    2022  Volume 13, Issue 5, Page(s) 311–319

    Abstract: Multiple myeloma (MM) is a neoplastic clonal proliferation of plasma cells, predominantly in the bone marrow. The presentation of MM in extramedullary tissue, particularly the liver, is uncommon with only a few reported cases in literature. We report a ... ...

    Abstract Multiple myeloma (MM) is a neoplastic clonal proliferation of plasma cells, predominantly in the bone marrow. The presentation of MM in extramedullary tissue, particularly the liver, is uncommon with only a few reported cases in literature. We report a rare and unusual presentation of kappa light chain restricted MM with progression of disease to involve the liver. MM was initially diagnosed on bone marrow biopsy, initially treated with carfilzomib, lenalidomide and dexamethasone, later changed to bortezomib, daratumumab and dexamethasone. There was subsequent progression with a new biopsy-proven myelomatous liver lesion. The patient could not receive high-dose chemotherapy due to multiple co-morbidities and extent of disease and eventually succumbed to her disease rapidly. This article emphasizes the poor prognosis of extramedullary involvement in MM and the pathogenic mechanisms by which it develops. Based on a review of the literature of other cases and case series of solitary or diffuse myeloma involvement in the liver, high-dose chemotherapy in combination with proteasome inhibitors and immunomodulators has the best success rate with less relapse and progressive disease in extramedullary myeloma. Our analysis concluded that the gain of CD44, loss of CD56, loss of very late antigen-4 (VLA-4), imbalance of the chemokine receptor-4-chemokine ligand-12 (CXCR4-CXCL12) axis, metastasis-associated lung adenocarcinoma 1 (MALAT1) upregulation, RAS pathway activation as well as 13q and 17p deletions show an increased propensity of malignant plasma cells to leave the bone marrow and hone in extramedullary sites giving rise to more aggressive extramedullary diseases. Targeted therapeutics such as CD44v-directed therapy and reactivation of p53 to wild-type conformation could potentially be evaluated as treatment options in the future to improve outcomes in this aggressive form of MM, especially in patients with advanced disease and limited treatment options.
    Language English
    Publishing date 2022-10-22
    Publishing country Canada
    Document type Case Reports
    ZDB-ID 2548989-6
    ISSN 1920-454X ; 1920-454X
    ISSN (online) 1920-454X
    ISSN 1920-454X
    DOI 10.14740/wjon1521
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Altered MicroRNA Expression in Intracranial Aneurysmal Tissues: Possible Role in TGF-β Signaling Pathway.

    Supriya, Manjunath / Christopher, Rita / Devi, Bhagavatula Indira / Bhat, Dhananjaya Ishwar / Shukla, Dhaval / Kalpana, Saligrama Ramegowda

    Cellular and molecular neurobiology

    2021  Volume 42, Issue 7, Page(s) 2393–2405

    Abstract: The molecular mechanisms behind the rupture of intracranial aneurysms remain obscure. MiRNAs are key regulators of a wide array of biological processes altering protein synthesis by binding to target mRNAs. However, variations in miRNA levels in ruptured ...

    Abstract The molecular mechanisms behind the rupture of intracranial aneurysms remain obscure. MiRNAs are key regulators of a wide array of biological processes altering protein synthesis by binding to target mRNAs. However, variations in miRNA levels in ruptured aneurysmal wall have not been completely examined. We hypothesized that altered miRNA signature in aneurysmal tissues could potentially provide insight into aneurysm pathophysiology. Using a high-throughput miRNA microarray screening approach, we compared the miRNA expression pattern in aneurysm tissues obtained during surgery from patients with aneurysmal subarachnoid hemorrhage (aSAH) with control tissues (GEO accession number GSE161870). We found that the expression of 70 miRNAs was altered. Expressions of the top 10 miRNA were validated, by qRT-PCR and results were correlated with clinical characteristics of aSAH patients. The level of 10 miRNAs (miR-24-3p, miR-26b-5p, miR-27b-3p, miR-125b-5p, miR-143-3p, miR-145-5p, miR-193a-3p, miR-199a-5p, miR-365a-3p/365b-3p, and miR-497-5p) was significantly decreased in patients compared to controls. Expression of miR-125b-5p, miR-143-3p and miR-199a-5p was significantly decreased in patients with poor prognosis and vasospasm. The target genes of few miRNAs were enriched in Transforming growth factor-beta (TGF-β) and Mitogen-activated protein kinases (MAPK) pathways. We found significant negative correlation between the miRNA and mRNA expression (TGF-β1, TGF-β2, SMAD family member 2 (SMAD2), SMAD family member 4 (SMAD4), MAPK1 and MAPK3) in aneurysm tissues. We suggest that miR-26b, miR-199a, miR-497and miR-365, could target multiple genes in TGF-β and MAPK signaling cascades to influence inflammatory processes, extracellular matrix and vascular smooth muscle cell degradation and apoptosis, and ultimately cause vessel wall degradation and rupture.
    MeSH term(s) Gene Expression Profiling ; Humans ; Intracranial Aneurysm ; MicroRNAs ; RNA, Messenger ; Signal Transduction ; Transforming Growth Factor beta
    Chemical Substances MIRN145 microRNA, human ; MIRN365 microRNA, human ; MIRN497 microRNA, human ; MicroRNAs ; RNA, Messenger ; Transforming Growth Factor beta
    Language English
    Publishing date 2021-06-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 283404-2
    ISSN 1573-6830 ; 0272-4340
    ISSN (online) 1573-6830
    ISSN 0272-4340
    DOI 10.1007/s10571-021-01121-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Circulating MicroRNAs as Potential Molecular Biomarkers for Intracranial Aneurysmal Rupture.

    Supriya, Manjunath / Christopher, Rita / Indira Devi, Bhagavatula / Bhat, Dhananjaya Ishwar / Shukla, Dhaval

    Molecular diagnosis & therapy

    2020  Volume 24, Issue 3, Page(s) 351–364

    Abstract: Introduction: Diagnosis of the rupture of an intracranial aneurysm (IA) relies on sophisticated neuro-imaging studies, and molecular biomarkers to identify an IA or predict its rupture are still unavailable.: Objective: Our objective was to determine ...

    Abstract Introduction: Diagnosis of the rupture of an intracranial aneurysm (IA) relies on sophisticated neuro-imaging studies, and molecular biomarkers to identify an IA or predict its rupture are still unavailable.
    Objective: Our objective was to determine the plasma microRNA (miRNA) expression profile in patients with ruptured IA presenting as aneurysmal subarachnoid hemorrhage (aSAH) and identify potential biomarkers of aneurysmal rupture.
    Methods: Plasma miRNA profiling was carried out using quantitative real-time polymerase chain reaction (qRT-PCR) in 20 patients with aSAH and 20 age- and sex-matched healthy controls. Eight differentially expressed miRNAs were validated by qPCR in a larger cohort of 88 patients with aSAH and 110 healthy controls. A receiver operating characteristic (ROC) curve was constructed to evaluate the overall performance of the miRNA-based assay. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis was used to determine the potential pathway of miRNA-target genes.
    Results: The miRNA profiles were clearly distinct in patients compared with controls. Validation studies showed that three upregulated miRNAs (miR-15a-5p, miR-34a-5p, miR-374a-5p) and five downregulated miRNAs (miR-146a-5p, miR-376c-3p, miR-18b-5p, miR-24-3p, miR-27b-3p) could distinguish patients with aSAH from healthy controls with high predicted probability (0.865 and 0.995, respectively). Further, the expression levels of the eight candidate miRNAs were significantly dysregulated only in aSAH cases and not in patients with SAH due to other causes. Plasma miR-146a-5p and miR-27b-3p were associated with clinical outcomes in patients with aSAH. Functional analysis of the eight differentially expressed miRNA showed that the target genes involved in signaling pathways were related to inflammation.
    Conclusions: Our study determined the plasma miRNA signature of ruptured IAs and identified eight candidate miRNAs that could be useful biomarkers for this condition. We hypothesize that these differentially expressed miRNAs may play pivotal roles in IA pathology.
    MeSH term(s) Adult ; Aged ; Aneurysm, Ruptured/diagnosis ; Aneurysm, Ruptured/etiology ; Biomarkers ; Circulating MicroRNA ; Computational Biology/methods ; Disease Management ; Disease Susceptibility ; Female ; Gene Expression Profiling ; Gene Ontology ; Humans ; Intracranial Aneurysm/etiology ; Intracranial Aneurysm/pathology ; Male ; MicroRNAs/blood ; MicroRNAs/genetics ; Middle Aged ; Molecular Sequence Annotation ; RNA Interference ; ROC Curve ; Real-Time Polymerase Chain Reaction ; Reproducibility of Results ; Sensitivity and Specificity ; Subarachnoid Hemorrhage/etiology ; Subarachnoid Hemorrhage/metabolism
    Chemical Substances Biomarkers ; Circulating MicroRNA ; MicroRNAs
    Language English
    Publishing date 2020-04-22
    Publishing country New Zealand
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2232796-4
    ISSN 1179-2000 ; 1177-1062
    ISSN (online) 1179-2000
    ISSN 1177-1062
    DOI 10.1007/s40291-020-00465-8
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  9. Article ; Online: Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.

    Supriya, Manjunath / De, Tanima / Christopher, Rita

    Journal of clinical laboratory analysis

    2017  Volume 32, Issue 1

    Abstract: Background: The use of dried blood spots (DBS) for the assay of lysosomal enzymes has facilitated the implementation of pilot studies for newborn screening for lysosomal storage disorders in various developed countries. The aim of the study was to ... ...

    Abstract Background: The use of dried blood spots (DBS) for the assay of lysosomal enzymes has facilitated the implementation of pilot studies for newborn screening for lysosomal storage disorders in various developed countries. The aim of the study was to determine the influence of ambient temperature during DBS preparation and storage on lysosomal enzyme activity in a developing, tropical country.
    Methods: Blood samples from 12 healthy subjects collected on a S&S 903 filter paper were dried and stored at different temperatures for different periods of time. Activities of five lysosomal enzymes (acid α-glucosidase, acid α-galactosidase, acid β-glucocerebrosidase, acid sphingomyelinase, and galactocerebrosidase) were determined by tandem mass spectrometric and fluorimetric (acid α-glucosidase and acid β-glucocerebrosidase only) assays.
    Results: The mean activities of all five enzymes decreased significantly when DBS was dried at temperatures above 24°C (P<.0001). DBS stored at 4°C, 24°C, 30°C, 37°C, and 45°C for 10 days and more, also showed significant reduction in activities of all five enzymes (P<.0001).
    Conclusion: The results highlight the importance of maintaining the correct ambient temperature during DBS preparation and storage to avoid false positive results when screening for lysosomal storage disorders.
    MeSH term(s) Blood Specimen Collection/methods ; Blood Specimen Collection/standards ; Dried Blood Spot Testing/methods ; Dried Blood Spot Testing/standards ; Enzyme Stability ; Fluorometry ; Glycoside Hydrolases/analysis ; Glycoside Hydrolases/chemistry ; Glycoside Hydrolases/metabolism ; Humans ; Lysosomes/enzymology ; Tandem Mass Spectrometry ; Temperature
    Chemical Substances Glycoside Hydrolases (EC 3.2.1.-)
    Language English
    Publishing date 2017-03-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 645095-7
    ISSN 1098-2825 ; 0887-8013
    ISSN (online) 1098-2825
    ISSN 0887-8013
    DOI 10.1002/jcla.22220
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  10. Article ; Online: Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population.

    Supriya, Manjunath / De, Tanima / Christopher, Rita

    Clinical biochemistry

    2017  Volume 50, Issue 15, Page(s) 858–863

    Abstract: Objectives: The study aimed to establish age and gender-specific reference values for the activities of lysosomal enzymes (acid α-galactosidase [GLA], acid β-glucocerebrosidase [GBA], acid α-glucosidase [GAA], acid sphingomyelinase [ASM] and ... ...

    Abstract Objectives: The study aimed to establish age and gender-specific reference values for the activities of lysosomal enzymes (acid α-galactosidase [GLA], acid β-glucocerebrosidase [GBA], acid α-glucosidase [GAA], acid sphingomyelinase [ASM] and galactocerebrosidase [GALC]) in dried blood spots (DBS) of Indian population.
    Design and methods: A total of 3797 healthy Indian subjects (1456 females and 2341 males) aged from 2days to 60years were selected for the study. Activities of 5 lysosomal enzymes were determined by tandem mass spectrometry, for newborns (<30days), infants (>1month-1year), children (>1-5years) and (>5-18years) and adults (>18years).Variations in enzyme activities based on age and gender were studied. The reference interval was defined as the central 95% range, and was determined based on age and gender.
    Results: Highly significant differences in activities were observed for GAA (p=0.001), GLA (p<0.0001), GBA (p<0.0001), ASM (p<0.0001) and GALC (p<0.0001), between different age groups. Comparison of activities between genders showed significant difference for ASM in children aged 1-5years (p=0.03) with higher activity in females, and for GLA in children aged 5-18years (p=0.004) where the activity was higher in males. Reference intervals decreased with age for all enzymes, except GAA. The ranges of GLA and GALC were higher in females, whereas GBA was higher in males.
    Conclusion: The study establishes age and gender-specific reference values for the screening and identification of lysosomal storage disorders in Indian population. Our data may facilitate establishment of mass screening programs for these disorders in India.
    MeSH term(s) Adolescent ; Adult ; Age Factors ; Aging/blood ; Child ; Child, Preschool ; Dried Blood Spot Testing/methods ; Dried Blood Spot Testing/standards ; Female ; Humans ; India ; Infant ; Infant, Newborn ; Lysosomes/enzymology ; Male ; Middle Aged ; Sex Characteristics ; Tandem Mass Spectrometry/methods ; Tandem Mass Spectrometry/standards
    Language English
    Publishing date 2017-10
    Publishing country United States
    Document type Clinical Trial ; Journal Article
    ZDB-ID 390372-2
    ISSN 1873-2933 ; 0009-9120
    ISSN (online) 1873-2933
    ISSN 0009-9120
    DOI 10.1016/j.clinbiochem.2017.04.004
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