LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 4 of total 4

Search options

  1. Article: SERPINF1

    Selina, Agnes / Kandagaddala, Madhavi / Kumar, Vignesh / Abraham, Suneetha Susan Cleave / Danda, Sumita / Madhuri, Vrisha

    Bone reports

    2023  Volume 18, Page(s) 101690

    Abstract: ... ...

    Abstract SERPINF1
    Language English
    Publishing date 2023-05-26
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821774-3
    ISSN 2352-1872
    ISSN 2352-1872
    DOI 10.1016/j.bonr.2023.101690
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.

    Das, Sweta / Godbole, Koumudi / Abraham, Suneetha Susan Cleave / Ganesan, Paramasivam / Kamdar, Payal / Danda, Sumita

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 5, Page(s) 1606–1609

    Abstract: Alazami syndrome (ALAZS) (MIM 615071) is a rare autosomal recessive disorder characterized by short stature, dysmorphic facial features, developmental delay, and impaired intellect. It was first reported in a Saudi Arabian family in 2012. Three Indian ... ...

    Abstract Alazami syndrome (ALAZS) (MIM 615071) is a rare autosomal recessive disorder characterized by short stature, dysmorphic facial features, developmental delay, and impaired intellect. It was first reported in a Saudi Arabian family in 2012. Three Indian patients affected with ALAZS, one boy aged 13 years and other two sisters in their 40s are presented. These patients had few unreported dysmorphic facial features: high arched eyebrows and dental overcrowding. No microcephaly was noted in the sisters. One of the sisters did not have short stature. The boy also presented with unilateral buphthalmos of left eye. All three of them have been identified to harbor novel variants in LARP7.
    MeSH term(s) Adolescent ; Adult ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Dwarfism/genetics ; Dwarfism/pathology ; Female ; Genetic Predisposition to Disease ; Humans ; India/epidemiology ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Phenotype ; Ribonucleoproteins/genetics ; Siblings ; Young Adult
    Chemical Substances Larp7 protein, human ; Ribonucleoproteins
    Language English
    Publishing date 2021-02-11
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62118
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.

    Abraham, Suneetha Susan Cleave / Yoganathan, Sangeetha / Koshy, Beena / Oommen, Samuel Philip / Simon, Anna / Mathai, Sarah / Korula, Sophy / Mathew, Lydia / Sathishkumar, Dharshini / Jasper, Anitha / George, Renu / Danda, Sumita

    European journal of medical genetics

    2021  Volume 64, Issue 9, Page(s) 104291

    Abstract: Aicardi-Goutieres Syndrome (AGS) is a heterogeneous genetic syndrome, manifesting early as encephalopathy and is associated with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia and intracranial calcification. ... ...

    Abstract Aicardi-Goutieres Syndrome (AGS) is a heterogeneous genetic syndrome, manifesting early as encephalopathy and is associated with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia and intracranial calcification. The most severe neonatal type, AGS1, is caused by biallelic disease-causing variants in TREX1. In this study, we describe four patients with TREX1-related AGS1 whose phenotype overlaps with intra-uterine infections and neonatal lupus. Exome sequencing identified a previously reported TREX1 variant, c.223dup (NM_016381.5; p. Glu75GlyfsTer82) in all the four patients belonging to the Indian subcontinent. The functional consequence of the disease-causing variant was predicted by using a new combination of bioinformatics softwares. The recurrence of this pathogenic variant indicates a possible founder effect in TREX1 for AGS1 in this population. The phenotypic variability in those with this founder mutation can mimic intrauterine infections and neonatal lupus, thereby leading to misdiagnosis warranting a targeted genetic testing approach to be a part of the diagnostic workup to obtain a definite, early and cost-effective diagnosis in patients from Indian subcontinent with early onset encephalopathy.
    MeSH term(s) Autoimmune Diseases of the Nervous System/epidemiology ; Autoimmune Diseases of the Nervous System/genetics ; Autoimmune Diseases of the Nervous System/pathology ; Exodeoxyribonucleases/chemistry ; Exodeoxyribonucleases/genetics ; Female ; Founder Effect ; Gene Frequency ; Humans ; India ; Infant ; Male ; Mutation ; Nervous System Malformations/epidemiology ; Nervous System Malformations/genetics ; Nervous System Malformations/pathology ; Phenotype ; Phosphoproteins/chemistry ; Phosphoproteins/genetics ; Protein Domains
    Chemical Substances Phosphoproteins ; Exodeoxyribonucleases (EC 3.1.-) ; three prime repair exonuclease 1 (EC 3.1.16.-)
    Language English
    Publishing date 2021-07-22
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104291
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 84/9: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Clinicogenetic Profile, Treatment Modalities, and Mortality Predictors of Gaucher Disease: A 15-Year Retrospective Study.

    Barney, Anitha M / Danda, Sumita / Abraham, Aby / Fouzia, N A / Gowdra, Aruna / Abraham, Suneetha Susan Cleave / Sony, Mohan / Das, Sweta / Korula, Sophy / Mathai, Sarah / Simon, Anna / Kumar, Sathish

    Public health genomics

    2021  Volume 24, Issue 3-4, Page(s) 139–148

    Abstract: Introduction: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants in the Glucosidase beta acid (GBA) gene result in defective functioning of glucosylceramidase that causes deposition of ... ...

    Abstract Introduction: Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder, in which biallelic pathogenic variants in the Glucosidase beta acid (GBA) gene result in defective functioning of glucosylceramidase that causes deposition of glucocerebroside in cells. GD has 3 major types namely, non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). Definite treatment options are limited and expensive. They succumb early to the disease, if untreated. There is paucity of studies from the Indian subcontinent, which elicit the factors resulting in their premature mortality.
    Materials and methods: A retrospective study was carried out in a tertiary care setting of South India to assess the clinical profile, mutation spectrum, and various management strategies (only supportive therapy, enzyme replacement therapy [ERT], substrate reduction therapy [SRT] haematopoietic stem cell transplant [HSCT]), and mortality predictors of patients with GD from 2004 to 2019. A Kaplan-Meier survival curve was plotted. In silico predictions were performed for novel variants.
    Results: There were 60 patients with all types of GD seen over the study period of 15 years. Their median age at diagnosis was 2 years. The median follow-up was for 5 years (interquartile range [IQR] = 2-8). The overall mortality rate was 35%; however, it was only 10% in those receiving definite treatment. Mortality was higher (47.5%) by more than 4 folds in those only on supportive therapy. The median survival from the time of diagnosis was 6.3 years (IQR = 3.5-10.8) in the definite treatment group and 3.5 years (IQR = 1-5) in those on supportive therapy. The Kaplan-Meier survival analysis showed significant (p value 0.001) mortality difference between these groups. The multiple logistic regression analysis found the neuronopathic type (OR = 5) and only supportive therapy (OR = 6.3) to be the independent risk factors for premature mortality.
    Conclusion: GD is a rare disease with a high mortality rate, if left untreated. ERT and SRT are the definitive treatments which increase the survival. In resource-limited settings like India, with higher prevalence of the neuronopathic type, HSCT may be a more suitable definitive treatment option, due to its one-time intervention and cost, assuming similar efficacy to ERT. However, the efficacy and safety of HSCT in GD needs to be established further by substantial patient numbers undergoing it.
    MeSH term(s) Enzyme Replacement Therapy ; Gaucher Disease/diagnosis ; Gaucher Disease/genetics ; Gaucher Disease/therapy ; Glucosylceramidase/genetics ; Glucosylceramidase/therapeutic use ; Humans ; Mutation ; Retrospective Studies
    Chemical Substances Glucosylceramidase (EC 3.2.1.45)
    Language English
    Publishing date 2021-04-06
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2457023-0
    ISSN 1662-8063 ; 1662-4246
    ISSN (online) 1662-8063
    ISSN 1662-4246
    DOI 10.1159/000514507
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4908: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top