Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2. It is inherited in an autosomal dominant pattern with a high degree of penetrance, but variable expressivity results in a wide range of clinical features. Here we report on a 31-year-old male patient who presented with elevated serum alkaline phosphatase and gamma-glutamyl transpeptidase, and was diagnosed with AGS associated with the JAG1 mutation after a comprehensive workup.
Adult* ; Alagille Syndrome* ; Alkaline Phosphatase ; Bile Ducts, Intrahepatic ; Cholestasis* ; Facies ; gamma-Glutamyltransferase ; Heart ; Heart Defects, Congenital ; Humans ; Liver ; Male ; Penetrance ; Pulmonary Artery ; Skeleton

Purpose: This study aims to determine nursing students’ orientation toward patient-centered care (PCC) and identify its influencing factors: their personality traits, empathy, and psychological capital (PsyCap). A mediating model was used to test the role of PsyCap in the association between empathy and PCC. Methods: This cross-sectional study included 300 nursing students from seven universities in South Korea. Their orientation toward PCC was measured using the Patient-Practitioner Orientation Scale (PPOS). Moreover, we analyzed the data using independent t-tests, ANOVA, Pearson's r, and SPSS PROCESS macro. Results: The overall mean score on the PPOS was 3.82±0.43, with the Caring and Sharing subscales accounting for 3.95±0.68 and 3.69±0.50, respectively. Nursing students’ satisfaction with their majors, practicums, and motivation for choosing this profession was significantly related to Caring-not Sharing. Nevertheless, PsyCap positively influenced both Caring (β=.24, p<.001) and Sharing (β=.18, p=.002). While empathy failed to significantly impact both Caring (β=.12, p=.087) and Sharing (β=.01, p=.931). PsyCap mediated the association of empathy with Caring (β=.20, p=.004); however, the same was not true for Sharing (β=.07, p=.366). Conclusion The findings indicate that the orientation of Korean nursing students toward PCC is not high. Therefore, to improve the PPOS Caring subscale, nurse educators should formulate better strategies to enhance nursing students’ satisfaction with their major and practicums, empathy, and PsyCap. The importance of sharing health-related information with patients and family caregivers should be emphasized in the nursing curriculum.

A prognosis of hepatocellular carcinoma (HCC) with portal vein tumor thrombosis (PVTT) is dismal that the median survival is 2 to 4 months without treatment. Sorafenib, the standard regimen of advanced HCC, can prolong median survival only 1.5 months. A 50-year-old man with a history of chronic hepatitis B was diagnosed advanced HCC with PVTT. By a multidisciplinary medical team approach, the combination of 3-demensional conformal radiation therapy with sequential sorafenib was challenged. 4 months after initiation of treatment, he achieved partial response as modified response evaluation criteria in solid tumors criteria. Sorafenib was continued so far, and stable disease has been maintained up to now, without significant adverse effect.
Carcinoma, Hepatocellular* ; Hepatitis B, Chronic ; Humans ; Middle Aged ; Portal Vein* ; Prognosis* ; Response Evaluation Criteria in Solid Tumors ; Thrombosis