68 research outputs found

    Cirrhosis of the Liver and Incidence of associated Osteoporosis

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    Abstract: Objective: The main aim of this study is to find the incidence of osteoporosis (a bone weakening and breaking disease) in cirrhosis of the liver.Place and Duration of the Study: This study was carried out in services hospital Lahore in a period of 8 months form May 2018 to December 2018. Materials and Methods: Patients were selected who presented in the medical department of Services hospital Lahore. Patients were selected randomly and only those patients were selected who were willing to take part in this study. Mean age of the patients was between 40 t0 70 years and all the patients had cirrhosis of the liver either due to Hepatitis B or C. On DEXA scan T score <2.5 was considered to have osteoporosis. Informed consent was taken from all the patients.Results:  A total of 50 cases were seen with cirrhosis of the liver and included 18(36%) and 32(64%) males. Mean age of the patients was 47 years. 14(28%) of the patients had osteoporosis. More males 10 (31.25%) were affected with osteoporosis. In age group 56 to 70 years the incidence was much higher. Duration for which the patient had cirrhosis had no significant effect on the incidence.  Conclusion: Almost every 4th to 5th case of cirrhosis of the liver suffers from osteoporosis which is neglected mostly and not given significance. In people with higher age the complication is more frequent

    Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families

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    We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport syndrome. The second patient was found to have a heterozygous, likely pathogenic variant in COL4A4 (c.2842G>T). Both these variants in COL4A5 and COL4A4 are novel, and they were detected using whole exome sequencing and gene panel testing, respectively. Additionally, we discuss the complexities of diagnosis in such cases and the benefits of using the abovementioned diagnostic approaches
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