Identification of simultaneous mutation of fibrinogen alpha chain and protein C genes in a Japanese kindred

Afibrinogenaemia usually induces a bleeding tendency during infancy, whereas protein C deficiency increases susceptibility to thrombosis in children or adolescence. Mutations of these genes have been, therefore, established as independent risk factors for coagulation disorders. We describe the homozygous mutation of the fibrinogen alpha chain gene and additional heterozygous mutation of the protein C gene in a male infant who showed prolonged umbilical bleeding after birth. On examination, the plasma fibrinogen was undetectable, and the activity and antigen level of protein C were reduced. The patient showed no fibrinogen Aalpha chain as well as Bbeta and gamma chains by Western blotting. The sequencing analysis showed the homozygous deletion of 1238 bases from intron 3 at position 2008 to intron 4 at position 3245 in the fibrinogen alpha chain gene. Both parents were heterozygous carriers of this mutation. In this patient, an additional mutation was also detected in the protein C gene: the heterozygous deletion of exon 7 at position 6161-6163 or 6164-6166, resulting the deletion of one amino acid (Lys150 or 151). His mother was also a carrier of this mutation. As the simultaneous mutation of the fibrinogen alpha chain and protein C genes has not been previously reported, the influence of the interaction between these two mutations on the clinical manifestations of this patient should be carefully monitored for a long period.     

Novel serum tumor marker, RCAS1, in pancreatic diseases

AIM: As tumor markers for pancreatic carcinoma, carcinoembryonic antigen (CEA) and carbohydrate antigen (CA) 19-9 have been used, but the sensitivity and specificity are not enough for the diagnosis of pancreatic carcinoma. METHODS: A novel serum tumor marker, RCAS1, was compared with two conventional serum tumor markers, CEA (highly specific for pancreatic cancer) and CA 19-9 (highly sensitive for pancreatic cancer), in 48 patients with pancreatic exocrine tumors. RESULTS: When the diagnosis of benign or malignant conditions was examined by one tumor marker, the sensitivity of RCAS1 alone (55%) was higher than that of CEA alone (27%) and the specificity of RCAS1 alone (92%) was greater than that of CA19-9 alone (78%). When examined by a combination of two markers, the sensitivity of a combination of RCAS1 and CA19-9 (95%) was superior to those of CA19-9 alone (78%), RCAS1 alone (55%, P = 0.002), CEA alone (27%) (P<0.001), RCAS1 and CEA (59%) and CA19-9 and CEA (82%). CONCLUSION: These results suggest that the combination of RCAS1 and CA19-9 is highly sensitive for pancreatic carcinoma.     

A giant abdominal hematoma caused by seatbelt injury led to the development of shock

Trauma to soft tissues is an important consideration in cases of seatbelt injury, as soft‐tissue injury can cause shock. Careful observation for hours in the clinic at least, along with appropriate imaging studies, is necessary if signs of a seatbelt injury exist.     

Radiofrequency ablation for pulmonary metastases from esophageal squamous cell carcinoma

Radiofrequency ablation (RFA) is increasingly being used for the treatment of intrathoracic malignancies. Although RFA has been found to be promising in the treatment of lung metastases from some types of neoplasms, little is known concerning its clinical significance in the treatment of pulmonary metastasis from esophageal squamous cell carcinoma (ESCC). This retrospective study evaluated the feasibility, safety, and effectiveness of computed tomography‐guided RFA for pulmonary metastasis from ESCC. A series of 10 ESCC patients with 17 pulmonary tumors were included. Correct placement of the ablation device into the target tumor proved to be feasible in all tumors (100%). The mean visual analog scale score, with values that ranged from 0 (no pain) to 10 (worst pain possible), was 1. This suggested that this procedure was well tolerated. No procedure‐related deaths occurred. A pneumothorax needing drainage was a major complication in two patients. Local control of ablated tumor lasting for at least 1 year was achieved in 10 (83%) of 12 assessable tumors. Although locoregional recurrences developed in two tumors, these lesions could be recontrolled by repeat treatment with RFA. Three patients died of recurrent disease. The predicted 1‐ and 2‐year overall survival rates after lung RFA were 77.8% and 62.2%, respectively. Percutaneous computed tomography‐guided RFA yielded relatively high levels of local control in patients with pulmonary metastases from ESCC and was associated with an acceptable level of complications. It was concluded that a prospective study will be necessary to evaluate the effectiveness of a combination of systemic therapy and RFA for ESCC lung metastases.     

Multimodal endoscopic treatment for delayed severe esophageal stricture caused by incomplete stent removal

The usefulness of a covered self‐expandable metallic stent for benign esophageal stricture and perforation was well established. In case of benign disease, early stent removal was recommended within 6–8 weeks after placement. A case with severe esophageal stricture caused by incomplete stent removal 7 years after stent placement for spontaneous esophageal rupture was reported. Residual stent fragments could be removed by step‐by‐step multimodal endoscopic treatment, producing satisfactory luminal diameter of the esophagus. In particular, stent trimming with argon plasma coagulation was safe and effective strategy. The endoscopic stent removal is minimally invasive and should be attempted before surgical intervention; however, it is most important to ensure early stent removal before tissue ingrowth or overgrowth can develop.