Background Non-alcoholic fatty liver disease (NAFLD) is one of the types of fatty liver which occurs when exceeive fat is deposited in the liver due to causes other than excessive alcohol use, NAFLD is subdivided into non alcoholic fatty liver (NAFLD) and nonalcoholic steatohepatitis (NASH). In NAFLD, hepatic steatosis is present without evidence of significant inflammation, whereas in NASH, hepatic steatosis is associated with hepatic inflammation Aims To evaluate the role of CK-18 as a non invasive marker in diagnosis of NASH and its usefulness in correlation with disease severity in Egyptian patients. Patients and Methods 60 subjects were divided into 2 groups: group I: including 30 patients with NAFLD, group II: including 30 matched healthy controls Diagnosis of NASH and its discrimination from NAFL was done by fibroscan. CK-18 level in plasma was measured for all subjects using ELISA. Results CK-18 was significantly elevated in patients of group I in comparison to group II, with mean ± SD: 460 ± 279, 167 ± 56 and 149 ± 57, respectively, and P value: 0.001. with mean ±SD: 59.6± 28, when compared with control group (with 23±8) P value < 0.001. ROC curve between Cases and Control regard CK18 with Area Under the Curve (AUC): 0.925. Cutoff > 30 ug/l With Sensitivity: 86.67% & Specificity: 83.33%. Ck-18 was found to correlate with steatosis and fibrosis assessed by fibroscan with P value< 0.001. Conclusion Measurement of serum cytokeratin 18 fragment levels (CK18) correlate with the Fibroscan (Transient Elastograph) as a non invasive tests in diagnosis & prognosis of non alcoholic fatty liver diseases (NAFLD).
ABSTRACT. Autosomal recessive polycystic kidney disease (ARPKD)is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD. Whole-exome data analysis was used to search for additional rare variants in additional ciliopathy genes that may have contributed to the unusual brain phenotype. Aside from a rare hypomorphic allele in MKS1, no other pathogenic variants were detected. 3619Polycystic kidney disease and ventriculomegaly ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 3618-3624 (2015) We conclude that the homozygous pathogenic mutation in PKHD1 underlies the ciliopathy phenotype in this patient.
Background Functional single ventricle (FSV) is a spectrum of severe congenital heart disease, with multiple anatomic variations but similar surgical treatment strategies. FSV patients are living longer into adulthood compared to two or three decades ago, and they are more frequently undergoing imaging to assist in clinical and surgical management. Objective To assess the relation between admission eGFR, HDL, Monocytes, CRP & albumin levels in patients presenting with acute STEMI and angiographic no-reflow after primary PCI. Material and Methods From October 2018 to February 2019, 60 patients with STEMI who underwent primary PCI in Ain-Shams University hospitals. All patients subjected to history, clinical examination, ECG pre and post pPCI, pre-pPCI eGFR, monocytes, HDL, CRP and albumin, echocardiography. Patients were divided into two groups based on post-pPCI Thrombolysis in Myocardial Infarction (TIMI) flow grade. No reflow was defined as TIMI flow grades ≤ 2, and normal reflow was defined as TIMI 3 flow grade. All the laboratory parameters were measured on admission before pPCI. Results The study population was divided into 2 groups: reflow (n = 31) and no-reflow (NR) (n = 29) groups. CRP over albumin ration “CAR” (7.9 [4.41-16.18] vs 1.74 [1.54-2.35] (P <.001) were significantly higher in the NR group than in the reflow group, and these factors were found to be independent predictors of NR development. However, eGFR and Monocytes over HDL ratio “MHR” didn’t show any statistical differences between the two groups. Conclusion No-reflow can be predicted by systemic inflammation markers including monocytes, CRP, albumin and HDL. CAR has the highest positive predictive value for no-reflow.
Background interactions between the heart and the liver have been described. The presence and severity of non-alcoholic fatty liver disease (NAFLD) was found to be associated with increased QTc interval and subclinical cardiac abnormalities. Aim of the work is to evaluate the electrocardiographic (ECG) and echocardiographic changes in patients with NAFLD and its correlation with disease severity. Patients and Methods this study was conducted on 50 NAFLD patients and 50 controls. Clinical, laboratory, ultrasonographic examinations were done for all included subjects together with liver biopsies. ECG and ECHO were also performed. Results longer corrected QT was found in the NAFLD group in comparison to controls (406.6±26.8 msec and 380.0±24.5 msec respectively). Significant correlation between QTc and liver size, grade of steatosis and NAFLD activity score (NAS) was found. 16% and 8% of NAFLD patients had diastolic and valvular dysfunctions respectively. Conclusion NAFLD is associated with significant QTc prolongation and structural heart changes with significant correlation between QTc and disease severity.
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