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Browsing Articles by Author "Al-Mulla, Fahd"

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    A novel PKD1 variant demonstrates a disease-modifying role in trans with a truncating PKD1 mutation in patients with Autosomal Dominant Polycystic Kidney Disease
    (Ali et al. BMC Nephrology, 2015) Ali, Hamad; Hussain, Naser; Naim, Medhat; Zayed, Mohamed; Al-Mulla, Fahd; Kehinde, Elijah; Seaburg, Lauren; Sundsbak, Jamie; Harris, Peter
    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients.
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    Comparison of the sensitivity and specificity of urine cytology, urinary nuclear matrix protein-22 and multitarget fluorescence in situ hybridization assay in the detection of bladder cancer
    (Scandinavian Journal of Urology and Nephrology, 2010) Kehinde, Elijah; Al-Mulla, Fahd; Kapila, Kusum; Anim, Jehoram T.
    This study aimed to compare the sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of urine cytology, BladderChek nuclear matrix protein-22 (NMP22) and UroVysion fluorescence in situ hybridization (FISH) tests in patients with newly diagnosed bladder cancer, those with recurrent bladder cancer, and those with bladder cancer but in remission during surveillance. Material and methods. Voided urine samples obtained from 178 patients with suspected or known bladder cancer about to undergo diagnostic or surveillance cystoscopy and 25 control subjects without the disease were divided into four and used for urine culture and cytology, NMP22 BladderChek and UroVysion FISH tests.