Isolated focal intrahepatic extramedullary hematopoiesis mimicking hepatocellular carcinoma in a cirrhotic patient with secondary hemochromatosis from thalassemia.

Extramedullary hematopoiesis is a common complication of ineffective erythropoiesis and bone marrow replacement disorders. Because of its nonspecific presentation and radiological appearance, diagnosing focal intrahepatic extramedullary hematopoiesis is challenging and often misdiagnosed as a hepatic tumor. Herein, we describe the case of a 48-year-old male with thalassemia and AE Bart's disease with secondary hemochromatosis and cirrhosis who developed focal intrahepatic extramedullary hematopoiesis mimicking hepatocellular carcinoma. After hepatic resection, extramedullary hematopoiesis was not observed at any site, including in the remaining liver, at the 4-year follow-up.

Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study

Abstract Objective: To explore possible genes related to the development of persistent pulmonary hypertension of the newborn (PPHN). Methods: The authors identified 285 single nucleotide polymorphisms (SNPs) of 11 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, NOTCH3, SOD3, CPS1, ABCA3, ACVRL1, and SMAD9), using an Illumina Asian Screening Array-24 v1.0 BeadChip Array. The FastLmmC and R package was used for statistical analyses. The chi-square test and Cochrane-Armitage trend test were used to compare the allele and genotype frequencies between the groups and to test the genetic models, respectively. Results: A total of 45 PPHN infants and 294 control subjects were analyzed. The most common cause of PPHN was meconium aspiration syndrome. Among the 285 SNPs, 17 SNPs from 6 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, and NOTCH3) were significantly associated with PPHN (P < 0.05). After using the Bonferroni correction (P < 0.00018), only the rs17034984 SNP located in intron 1 of the EPAS1 gene remained significantly different between the PPHN and control subjects (P = 0.00014). The frequency of the TC/TT genotype of rs17034984 in the gene with the dominant model was significant in the patients with PPHN (OR = 5.38, 95% CI: 2.15-13.49). The T allele frequency of rs17034984 in the gene showed a significant difference compared with the control subjects (OR = 4.89, 95% CI: 2.03-11.82). Conclusions: The present study suggests that the rs17034984 variant of EPAS1 gene is associated with PPHN.

Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study.

OBJECTIVE: To explore possible genes related to the development of persistent pulmonary hypertension of the newborn (PPHN). METHODS: The authors identified 285 single nucleotide polymorphisms (SNPs) of 11 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, NOTCH3, SOD3, CPS1, ABCA3, ACVRL1, and SMAD9), using an Illumina Asian Screening Array-24 v1.0 BeadChip Array. The FastLmmC and R package was used for statistical analyses. The chi-square test and Cochrane-Armitage trend test were used to compare the allele and genotype frequencies between the groups and to test the genetic models, respectively. RESULTS: A total of 45 PPHN infants and 294 control subjects were analyzed. The most common cause of PPHN was meconium aspiration syndrome. Among the 285 SNPs, 17 SNPs from 6 candidate genes (BMPR2, EPAS1, PDE3A, VEGFA, ENG, and NOTCH3) were significantly associated with PPHN (P < 0.05). After using the Bonferroni correction (P < 0.00018), only the rs17034984 SNP located in intron 1 of the EPAS1 gene remained significantly different between the PPHN and control subjects (P = 0.00014). The frequency of the TC/TT genotype of rs17034984 in the gene with the dominant model was significant in the patients with PPHN (OR = 5.38, 95% CI: 2.15-13.49). The T allele frequency of rs17034984 in the gene showed a significant difference compared with the control subjects (OR = 4.89, 95% CI: 2.03-11.82). CONCLUSIONS: The present study suggests that the rs17034984 variant of EPAS1 gene is associated with PPHN.

Primary follicular lymphoma of the duodenum: a case report and review of literatures.

Follicular lymphoma (FL) is one of the most common types of non-Hodgkin lymphoma (NHL). The gastrointestinal tract is the most involved extra-nodal site of NHL. Primary duodenal FL (DFL) is a rare entity with only a few reported cases. It mainly involves the second part of the duodenum and has an excellent prognosis. We report the case of a 74-year-old man who underwent esophagogastroduodenoscopy. Endoscopic findings revealed multiple small whitish mucosal nodules which were detected around the major duodenal papilla. Biopsy of these lesions was compatible with grade I FL. Further investigation failed to demonstrate any evidence of nodal or systemic involvement; thus, the clinical staging was stage I, according to the Lugano staging system. A "watch and wait" policy was chosen. Neither lesion aggregation nor lymphadenopathy was noted during the 5-year follow-up period. In conclusion, this was an uncommon case of DFL with an indolent nature and excellent prognosis. However, further studies are needed to clarify the characteristics, prognosis, and therapeutic approach.

Immunoglobulin G4-associated autoimmune hepatitis with peripheral blood eosinophilia: a case report.

BACKGROUND: Immunoglobulin G4 (IgG4) associated autoimmune hepatitis (AIH) has been recognized as a type of autoimmune disease that responds to corticosteroid. The diagnosis is based on elevation of the serum IgG4 level, abundance of IgG4 enhanced plasma cell infiltration in the portal region of the liver, and satisfaction of the criteria for "definite AIH" under the revised International Autoimmune Hepatitis Group (IAIHG) scoring system. However, the clinical course of the disease is unclear. CASE PRESENTATION: A 65-year-old man with jaundice and peripheral blood eosinophilia. His IAIHG and simplified score was compatible with definite AIH and his IgG4 level was elevated. Magnetic resonance imaging did not reveal abnormalities in the hepatobiliary system or pancreas. A liver biopsy revealed interface hepatitis with IgG4 positive plasma cell infiltration in the portal region, without evidence of bile duct injury. He responded to 4-week period of induction prednisolone therapy and had no recurring symptoms under maintenance therapy of 5 mg prednisolone during the 3-year follow up. CONCLUSIONS: This was a rare case that demonstrated an association between IgG4 associated AIH and the presence of peripheral blood eosinophilia.

Fatal Vernix Caseosa Aspiration Associated With Persistent Pulmonary Hypertension of the Newborn.

Vernix caseosa aspiration is an extremely rare condition resulting in high mortality if complicated by persistent hypertension of the newborn (PPHN). Herein we offer the first case report of PPHN due to massive vernix caseosa aspiration documented by histopathological examination. This case report is presented to provide a synopsis of the pathoetiology of PPHN related to vernix caseosa aspiration syndrome as likely to be encountered by neonatologists and general pediatricians involved with neonatal care.