Endovascular Treatment for Lower-extremity Arterial Thrombosis in a Patient with Congenital Afibrinogenemia and a History of Bleeding Complications

Congenital afibrinogenemia is a rare autosomal recessive blood disorder that accompanies thrombotic complications and is associated with bleeding tendency. The management of these opposing complications remains a challenge. Endovascular treatment (EVT) for peripheral arterial thrombosis has not been described in previous studies. A 57-year-old man with congenital afibrinogenemia developed back pain and left lower leg pain. The cause of the pain was confirmed to be renal infarction and lower extremity arterial thrombosis by Doppler ultrasound and contrast-enhanced computed tomography. He was treated with EVT for the lower extremity arterial thrombosis, leading to an excellent short-term improvement without bleeding.     

Studien über die Histogenese des von mirals Röntgengeschwulst gedeuteten Neoplasmas (Zellwucherungen), das in pflanzlichen Organen nach Röntgenbestrahlung entsteht

Ohne ZusammenfassungMit 2 Textabbildungen.Siehe Gann (jap.), Nipponische Z. Krebsforschg18, 322–324 (1924); Z. Krebsforschg22, 207–208 (1925).Der Kaiserlichen AkademieTeikoku Gakusiin möchte ich auch an dieser Stelle für die Bereitstellung der für die vorliegenden Untersuchungen erforderlichen Mittel meinen ergebensten Dank aussprechen.     

Detection of HEY1‐NCOA2 fusion by fluorescence in‐situ hybridization in formalin‐fixed paraffin‐embedded tissues as a possible diagnostic tool for mesenchymal chondrosarcoma

Mesenchymal chondrosarcoma (MC) is an extremely rare subtype of chondrosarcoma. A tumor specific fusion gene, HEY1‐NCOA2 fusion, was recently identified in this tumor. The finding raises the possibility that the diagnosis of MC can be improved by examining the fusion gene. In the present study, we aimed to evaluate the efficacy of fluorescence in situ hybridization (FISH) in detecting HEY1‐NCOA2 fusion for the diagnosis of MC. Specimens from 10 patients diagnosed with MC were used for the study. Dual‐color FISH was performed using two different probes that specifically hybridize to HEY1 and NCOA2, respectively. Fusion signals were identified in all but two specimens, in which no signal was detected, presumably because of inadequate sample preparation. In accordance with results of a previous study, FISH analysis was highly sensitive in detecting HEY1‐NCOA2 fusion in adequately prepared MC samples. The current study adds further support for the use of HEY1‐NCOA2 fusion as a valid diagnostic marker for MC.     

Interleukin (IL)1beta, IL-1alpha, and IL-1 receptor antagonist gene polymorphisms in patients with temporal lobe epilepsy

Proinflammatory cytokines, including interleukin (IL)-1beta, are known to modulate effects of neurotoxic neurotransmitters discharged during excitation or inflammation in the central nervous system (CNS). They also regulate development of glial scars at sites of CNS injury. To elucidate a genetic predisposition of temporal lobe epilepsy with hippocampal sclerosis (TLE-HS+), we studied polymorphisms in the IL-1beta, IL-1alpha, and IL-1 receptor antagonist (IL-1RA) genes in 50 patients with TLE-HS+ and in 112 controls. Fifty-three patients who had TLE without HS were also examined (TLE-HS-) as disease controls. The distribution of the biallelic polymorphism in the promoter region at position -511 of the IL-1beta gene (IL-1B-511) was significantly different both between TLE-HS+ patients and controls and between TLE-HS+ and TLE-HS- patients. The differences were due to overrepresentation of the homozygotes for IL-1B-511*2, which is suggested to be a high producer of IL-1beta, in TLE-HS+ patients compared with both controls and TLE-HS- patients. In contrast, there was no difference between TLE-HS- patients and controls. Our data suggest that, in the homozygotes for IL-IB-511*2, minor events in development such as febrile convulsions could set up a cascade leading to HS.     

Neurophysiological and neuropathological studies in two children with unusual form of multiple system degeneration: evidence for cerebellar and brainstem involvement

Comparative neurophysiological and neuropathological studies were performed in two children who were found as a very rare multiple system degeneration (MSD) in brainstem and cerebellum. One young child suffered from both multiple system and retinal degeneration and another child had widespread multiple system degeneration associated with lipoprotein disorder and liver cirrhosis. The results of the neurophysiological studies indicated dysfunction of the brainstem and the peripheral nerves and were well correlated with the clinical course. CT studies showed progressive cerebellar atrophy. Since serial neurophysiological and CT studies were compatible with the neuropathological findings, the combination of these examinations seems to be quite valuable for understanding the pathogenesis and monitoring the progression of MSD in childhood.