Browsing by Subject "clinical feature"

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    Iatrogenic superficial external pudendal artery pseudoaneurysm: Treatment with doppler us-guided compression
    (Tehran University of Medical Sciences (TUMS), 2014) Algin O.; Mustafayev, A.; Ozmen, E.
    Pseudoaneurysms rarely occur as a serious complication following incomplete hemostasis of an arterial puncture site. As a result of the increase in diagnostic and therapeutic angiography, the frequency of iatrogenic pseudoaneurysm has increased as well. Iatrogenic pseudoaneurysms associated with angiographic catheterization occur most commonly in the common femoral artery. Here we report a case of iatrogenic superficial external pudendal artery (SEPA) pseudoaneurysm following cardiac catheterization, which was diagnosed with Doppler ultrasound (US) and multidetector computed tomographic angiography (MDCTA) before Doppler US-guided compression therapy. To the best of our knowledge, iatrogenic SEPA pseudoaneurysm, which is an unusual vessel location for pseudoaneurysm occurrence, has not been reported in the literature. In patients in whom anticoagulant-thrombolytic therapy or therapeutic catheterization with larger sized sheath is planned, determination of the precise localization of arterial puncture site is important for the prevention of iatrogenic pseudoaneurysm development. Arterial puncture guided with Doppler US might reduce complications. When suspected, MDCTA is useful in the diagnosis and demonstration of iatrogenic pseudoaneurysms. Treatment of US-guided compression should be the first choice for iatrogenic pseudoaneurysms. Interventional radiologists and cardiologists should have enough experience about the catheterization complications and their treatment in order to decrease the morbidity and mortality related to the intervention.
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    Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies
    (Elsevier Ltd, 2014) Kayman-Kurekci G.; Talim, B.; Korkusuz P.; Sayar, N.; Sarioglu, T.; Oncel I.; Sharafi P.; Gundesli H.; Balci-Hayta, B.; Purali, N.; Serdaroglu-Oflazer P.; Topaloglu H.; Dincer P.
    We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, rigid spine and contractures of the proximal and distal interphalangeal hand joints. Additionally, cardiomyopathy and respiratory involvement were noted. DNA sequencing of torsinA-interacting protein 1 (TOR1AIP1) gene encoding lamina-associated polypeptide 1B (LAP1B), showed a homozygous c.186delG mutation that causes a frameshift resulting in a premature stop codon (p.E62fsTer25). We observed that expression of LAP1B was absent in the patient skeletal muscle fibres. Ultrastructural examination showed intact sarcomeric organization but alterations of the nuclear envelope including nuclear fragmentation, chromatin bleb formation and naked chromatin. LAP1B is a type-2 integral membrane protein localized in the inner nuclear membrane that binds to both A- and B-type lamins, and is involved in the regulation of torsinA ATPase. Interestingly, luminal domain-like LAP1 (LULL1)-an endoplasmic reticulum-localized partner of torsinA-was overexpressed in the patient's muscle in the absence of LAP1B. Therefore, the findings suggest that LAP1 and LULL1 might have a compensatory effect on each other. This study expands the spectrum of genes associated with nuclear envelopathies and highlights the critical function for LAP1B in striated muscle. © 2014 Elsevier B.V.