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  • 1.
    Borota, Ljubisa
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
    Mahmoud, Ehab
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
    Nyberg, Christoffer
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
    Lewén, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
    Enblad, Per
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
    Ronne-Engström, Elisabeth
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
    Dual lumen balloon catheter - An effective substitute for two single lumen catheters in treatment of vascular targets with challenging anatomy2018In: Journal of clinical neuroscience, ISSN 0967-5868, E-ISSN 1532-2653, Vol. 51, p. 91-99, article id S0967-5868(17)31621-1Article in journal (Refereed)
    Abstract [en]

    The aim of this study was to describe our experience in the treatment of various pathological conditions of the cranial and spinal blood vessels and hypervascularized lesions using dual lumen balloon catheters. Twenty-five patients were treated with endovascular techniques: two with vasospasm of cerebral blood vessels caused by subarachnoid hemorrhage, one with a hypervascularized metastasis in the vertebral body, two with spinal dural fistula, four with cerebral dural fistula, three with cerebral arteriovenous malformations, and 13 with aneurysms. The dual lumen balloon catheters were used for remodeling of the coil mesh, injection of various liquid embolic agents, particles and nimodipine, for the prevention of reflux and deployment of coils and stents. The diameter of catheterized blood vessels varied from 0.7 mm to 4 mm. Two complications occurred: perforation of an aneurysm in one case and gluing of the tip of balloon catheter by embolic material in another case. All other interventions were uneventful, and therapeutic goals were achieved in all cases except in the case with gluing of the tip of balloon catheter. The balloons effectively prevented reflux regardless of the type of the embolic material and diameter of blood vessel. The results of our study show that dual lumen balloon catheters allow complex interventions in the narrow cerebral and spinal blood vessels where the safe use of two single lumen catheters is either limited or impossible.

  • 2.
    Wall, Jacob
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
    Enblad, Per
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Neuroscience, Neurosurgery.
    Neurointensive care of patients with cerebral venous sinus thrombosis and intracerebral haemorrhage2018In: Journal of clinical neuroscience, ISSN 0967-5868, E-ISSN 1532-2653, Vol. 58, p. 83-88Article in journal (Refereed)
    Abstract [en]

    The aim was to review the neurointensive care (NIC) of cerebral venous sinus thrombosis patients with haemorrhage during a 15-year period. This is a severe condition with substantial mortality caused by increased intracranial pressure (ICP) and studies are lacking describing the complex picture of the NIC, which offers a large treatment arsenal for intracranial hypertension. Patients treated 2000-2015 were investigated. Data regarding patient characteristics, symptoms, imaging, ICP-treatment, NIC-treatment intensity, and outcome were collected and analysed. Twenty-four patients (13 women) were studied, mean age 46 (range 16-75). Twenty patients were in Glasgow coma scale motor score 6 (obeys), 2 in score 5 (localizes) and 2 in score 2 (extension) on admission. Mean haemorrhage volume was 17 ml (range 1-70). Twenty patients (83%) received unfractionated heparin and 3 (13%) low molecular weight heparin. Haemorrhagic progression occurred in 10 patients (42%). In 9 patients (38%), 4-6 of the treatment options mechanical ventilation, hyperventilation, ICP-monitoring, cerebrospinal fluid-drainage, osmotherapy, barbiturates or surgery were used. In 3 patients mechanical ventilation only was used (hyperventilation in 1). Twelve patients were not managed with any of those treatment options. At follow up, 15/24 patients (62%) had favourable outcome (4 missing). The study shows that many patients needed multiple actions to treat intracranial preassure but more than 60% achieved favourable clinical outcome. Preferably, patients with cerebral venous sinus thrombosis and haemorrhage who are awake should have fast access to NIC because it appears difficult to predict who will deteriorate and promptly need NIC treatment.

  • 3.
    Zulfiqar, Shumaila
    et al.
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Tariq, Muhammad
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Ali, Zafar
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Fatima, Ambrin
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Klar, Joakim
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Abdullah, Uzma
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Ali, Aamir
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Ramzan, Shafaq
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    He, Sijie
    Allied Hosp, Radiol Dept, Faisalabad, Pakistan;BGI Shenzhen, Shenzhen 518083, Peoples R China.
    Zhang, Jianguo
    BGI Shenzhen, Shenzhen 518083, Peoples R China.
    Khan, Ayaz
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Shah, Suleman
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Khan, Sheraz
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Makhdoom, Ehtishamul Haq
    Govt Coll Univ, Dept Physiol, Faisalabad, Pakistan.
    Schuster, Jens
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Dahl, Niklas
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.
    Baig, Shahid Mahmood
    PIEAS, NIBGE, Human Mol Genet Lab, Faisalabad, Pakistan.
    Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families2019In: Journal of clinical neuroscience, ISSN 0967-5868, E-ISSN 1532-2653, Vol. 67, p. 19-23Article in journal (Refereed)
    Abstract [en]

    Hereditary Spastic paraplegias (HSPs) are heterogeneous group of degenerative disorders characterized by progressive weakness and spasticity of the lower limbs, combined with additional neurological features. This study aimed to identify causative gene variants in two nonrelated consanguineous Pakistani families segregating HSP. Whole exome sequencing (WES) was performed on a total of five individuals from two families including four affected and one phenotypically normal individual. The variants were validated by Sanger sequencing and segregation analysis. In family A, a novel homozygous variant c.604G > A (p.Glu202Lys) was identified in the CYP2U1 gene with clinical symptoms of SPG56 in 3 siblings. Whereas, a previously reported variant c.5769delT (p.Ser1923Argfs*28) in the SPG11 gene was identified in family B manifesting clinical features of SPG11 in 3 affected individuals. Our combined findings add to the clinical and genetic variability associated with CYP2U1 and SPG11 variants highlighting the complexity of HSPs. These findings further emphasize the usefulness of WES as a powerful diagnostic tool.

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