Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
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Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults Approach To Idiopathic Liver Disease In AdultsAaron HakimFollow this and additional works at: https://elischolar.library.yale.edu/ymtdlRecommended CitationHakim. Aaron, "A Genomic Approach To Idiopathic Liver Disease In Adults" (2019). Mile .Meiftciw Vkììí Digital Library. 5501.https://elbcholar.lib Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults fary.yale.edu/ymtdl/ 5501Ihl* Open Access Theos K brought to you for free and open KCCSS by the School of Medicine at EhScholar - A Digital Platform fLuận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
or Scholarly Publishing at Yale It has been accepted for inclusion in Yale Medicine Thesis Digital Library by an authorized administrator of EliSchohrYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults DISEASE IN ADULTSA Thesis Submitted to theYale University School of Medicinein Partial Fulfillment of the Requirements for theDegree of Doctor of MedicinebyAaron Hakim2019ABSTRACTAdult patients suffering from liver disease of unknown cause represent an understudied and underserved population. Over Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults the past 15 years, nextgeneration sequencing technologies have matured into an inexpensive, effective, and widely available set of tools to do genomicLuận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
analysis. One of these technologies, whole-exome sequencing (WES), allows for high throughput sequencing of all of the genome's protein coding regionYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults protein-altering coding variants in individual genes. WES has also contributed to the diagnosis and individualization of medical care in oncologic patients. The use of WES for the study of a broader spectrum of non-oncological diseases, among adults, remains poorly understood We assessed the utilit Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults y of WES in the diagnosis and management of adults with unexplained liver disease despite a comprehensive conventional workup and with no history of aLuận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
lcohol overuse.We performed exome sequencing and deep phenotyping in two independent adult cohorts with unexplained liver disease. In the first cohortYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults Hospital, four unrelated adult patients presenting with fatty liver disease, hypertriglyceridemia, insulin resistance, and physical exam findings suggestive of lipodystrophy were recruited for genomic analysis.In cohort 1. analysis of the exome in nineteen cases identified four monogenic disorders Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults in five unrelated adults. Patient 1 suffered for 18 years from devastating complications of undiagnosed Type 3 Familial Partial Lipodystrophy due to aLuận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
deleterious heterozygous variant in PPARG. Molecular diagnosis enabled initiation of leptin replacement therapy with subsequent normalization of liveYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults familial cholestasis type 3) due to recessive mutations in ABCB4. Patient 4 with a prior diagnosis of non-alcoholic steatohepatitis was found to harbor a mitochondrial disorder due to a homozygous pathogenic variant in NDUFB3', subsequent muscle biopsy revealed a deficiency of rotenone sensitive l+ Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults lll activity consistent with a mitochondrial disorder. This finding enabled initiation of disease-preventative measures including supplementation withLuận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
antioxidants. Patient 5 is a lean patient with hepatic steatosis of unknown etiology who was found to have a damaging heterozygous vanant in APOB. coYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults including a patient with an LMNA mutation, a patient with two pathogenic heterozygous mutations in APOE. a patient with a homozygous deleterious mutation in the leptin receptor (LEPR). and a patient with a pathogenic heterozygous variant in PPARG.In conclusion. WES provided a diagnosis with impact Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults on clinical management in a significant number of adults suffering from liver disease of unknown cause, gaining insight into disease pathogenesis andLuận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults
identifying new therapeutic andpreventive medicine interventions. This study supports the use of WES in the evaluation and management of adults with iYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic A Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults ti J. Jam D. Bale A. Mistry PK. Vilarinho s. Clinical utility of Genomic Analysis in Adults with Idiopathic Liver Disease. Journal of Hepatology 2019 (in press, February 2019)Presented in part:Vilarinho s, Hakim A. Oral E, Zhang X. Mistry PK A Genomic Approach to Idiopathic Liver Disease in Adults’ Luận văn Thạc sĩ A Genomic Approach To Idiopathic Liver Disease In Adults New Insights into Disease Pathogenesis and New Interventions at Bedside. Oral Abstracts (Abstract 170). Hepatology (Baltimore. Md) 2018:68’1-183.Yale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic AYale UniversityEliScholar - A Digital Platform for Scholarly Publishing at YaleYale Medicine 'thesis Digital LibrarySchool of Medicine43466A Genomic AGọi ngay
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