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  1. Article: Closure of right pulmonary artery to left atrium fistula by duct occluder device.

    Hussain, Ijaz / KhawajaKhail, Roomana / Khattak, Kamran / Irfan, Muhammad / Gul, Adnan Mehmood

    Annals of pediatric cardiology

    2018  Volume 12, Issue 3, Page(s) 321–324

    Abstract: We report the successful transcatheter closure of the right pulmonary artery fistula to the left atrium in a 4-year-old boy, who had presented with cyanosis and easy fatigability, identified after two-dimensional echocardiogram with bubble contrast study, ...

    Abstract We report the successful transcatheter closure of the right pulmonary artery fistula to the left atrium in a 4-year-old boy, who had presented with cyanosis and easy fatigability, identified after two-dimensional echocardiogram with bubble contrast study, computed tomography (CT) angiography, and cardiac catheterization. The fistula was successfully closed by a transcatheter approach using an 18/16 duct occluder device. There was marked improvement clinically and no complication on 2-months follow-up.
    Language English
    Publishing date 2018-11-08
    Publishing country India
    Document type Case Reports
    ZDB-ID 2430956-4
    ISSN 0974-5149 ; 0974-2069
    ISSN (online) 0974-5149
    ISSN 0974-2069
    DOI 10.4103/apc.APC_155_18
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

    Rahman, Obaid Ur / Khawar, Nadeem / Khan, Muhammad Aman / Ahmed, Jawad / Khattak, Kamran / Al-Aama, Jumana Yousuf / Naeem, Muhammad / Jelani, Musharraf

    Diagnostic pathology

    2013  Volume 8, Page(s) 78

    Abstract: Background: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular ... ...

    Abstract Background: Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.
    Methods: The study included clinical and molecular investigations of CGL disease in a consanguineous Pakistani family. For mutation screening all the coding exons including splice junctions of AGPAT2, BSCL2, CAV1 and PTRF genes were PCR amplified and sequenced directly using an automated DNA sequencer ABI3730.
    Results: Sequence analysis revealed a single base pair deletion mutation (c.636delC; p.Tyr213ThrfsX20) in exon 5 of BSCL2 gene causing a frame shift and premature termination codon.
    Conclusion: Mutation identified here in BSCL2 gene causing congenital generalized lipodystrophy is the first report in Pakistani population. The patients exhibited characteristic features of generalized lipodystrophy, Acanthosis nigricans, diabetes mellitus and hypertrophic cardiomyopathy.
    Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1913913076864247.
    MeSH term(s) Acanthosis Nigricans/genetics ; Base Sequence/genetics ; Codon, Nonsense ; Exons ; Female ; GTP-Binding Protein gamma Subunits/genetics ; Genetic Testing/methods ; Humans ; Lipodystrophy, Congenital Generalized/diagnosis ; Lipodystrophy, Congenital Generalized/genetics ; Male ; Pakistan ; Pedigree ; Phenotype ; Sequence Deletion/genetics
    Chemical Substances BSCL2 protein, human ; Codon, Nonsense ; GTP-Binding Protein gamma Subunits
    Language English
    Publishing date 2013-05-09
    Publishing country England
    Document type Journal Article
    ISSN 1746-1596
    ISSN (online) 1746-1596
    DOI 10.1186/1746-1596-8-78
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Abo-incompatible heart transplantation in infants: the Freeman Hospital experience.

    Rao, Jagan N / Hasan, Asif / Hamilton, John R L / Bolton, David / Haynes, Simon / Smith, Johnathan H / Wallis, Jonathan / Kesteven, Patrick / Khattak, Kamran / O'Sullivan, John / Dark, John H

    Transplantation

    2004  Volume 77, Issue 9, Page(s) 1389–1394

    Abstract: Background: Incompatibility of the major blood groups A, B, and O has been an absolute contraindication for heart transplantation. However, because of immunologic immaturity, infants may have relative protection from hyperacute rejection and thus could ... ...

    Abstract Background: Incompatibility of the major blood groups A, B, and O has been an absolute contraindication for heart transplantation. However, because of immunologic immaturity, infants may have relative protection from hyperacute rejection and thus could undergo transplantation with ABO-mismatched organs.
    Methods: Since January 2000, the authors have adopted a policy of considering infants for ABO-incompatible heart transplantation. Serum isohemagglutinin titers were measured before, during, and after transplantation. Two infants (3 and 2 months old) and a 21-month-old child underwent ABO-incompatible heart transplantation. During cardiopulmonary bypass, plasma exchange was performed. No other antibody-removal procedures were performed. A routine immunosuppressive regimen was used, and rejection was monitored by endomyocardial biopsies. An additional two patients (31 and 18 months old) were worked up but were unsuitable for ABO-incompatible transplantation because of high isohemagglutinin titers. They were successfully bridged to transplantation and received heart transplants from ABO-compatible donors.
    Results: All three infants with ABO-incompatible heart transplants are fit and well, 40 months, 30 months, and 12 months postoperatively. All three had serum antibodies to antigens of the donor's blood group before transplantation. No hyperacute rejection occurred. No morbidity attributable to the ABO incompatibility has been observed.
    Conclusions: ABO-mismatched heart transplantation may be undertaken safely and without any short-term adverse consequences in infants and young children in whom isohemagglutinin production is not yet established.
    MeSH term(s) ABO Blood-Group System/immunology ; Age Factors ; Antibodies/blood ; Contraindications ; Female ; Heart Transplantation/immunology ; Heart Transplantation/mortality ; Hemagglutinins/immunology ; Histocompatibility/immunology ; Humans ; Immune System/growth & development ; Immune System/immunology ; Infant ; Male ; Treatment Outcome
    Chemical Substances ABO Blood-Group System ; Antibodies ; Hemagglutinins
    Language English
    Publishing date 2004-05-15
    Publishing country United States
    Document type Clinical Trial ; Journal Article
    ZDB-ID 208424-7
    ISSN 1534-6080 ; 0041-1337
    ISSN (online) 1534-6080
    ISSN 0041-1337
    DOI 10.1097/01.tp.0000121766.35660.b2
    Database MEDical Literature Analysis and Retrieval System OnLINE

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