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Background: Vasospasm following an aneurysmal subarachnoid hemorrhage (SAH) causes serious neurological complications, despite surgical clipping of the aneurysm. Intrathecal urokinase (UK) infusion has been shown to effectively prevent symptomatic vasospasm in patients who have undergone endovascular obliteration of the ruptured aneurysms., Objective: To investigate whether intrathecal UK infusion can prevent symptomatic vasospasm in patients undergoing surgical or endovascular treatment., Methods: A total of 90 patients with severe aneurysmal SAH were enrolled and assigned to a surgical neck clipping (n = 56) or an endovascular coil embolization (n = 34) groups. After treatment, UK infusion from the lumbar drain was repeated in 32 patients in the surgical neck clipping group (group B) and all in the endovascular coil embolization group (group C) until complete resolution of the SAH was observed on computed tomography. The remaining 24 of the surgical neck clipping group, without UK infusion, were assigned to group A., Results: Symptomatic vasospasm occurred in 7 (29.2%) patients in group A, 2 (6.3%) in group B, and none in group C (group A vs. group B [P = 0.02]; group B vs. group C [P = 0.14]). Excellent clinical outcomes (modified Rankin score, 0 or 1) were observed in 37.5%, 59.4%, and 76.5% of patients in group A, B, and C, respectively (group A vs. group B [P = 0.11])., Conclusion: Clearance of SAH via intrathecal UK infusion significantly reduced symptomatic vasospasm in patients in both UK groups, resulting in better clinical outcomes., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Background: The standard surgical procedure for congenital biliary dilatation (CBD) consists of excision of extrahepatic bile duct and Roux-en-Y hepaticojejunostomy (HJ). However, alternative reconstructive operations for CBD includes hepaticoduodenostomy (HD). We compared postoperative complications and therapeutic outcomes of these two operations at our institution., Methods: From 1981 to 2009, there were 23 traceable patients who underwent operation for CBD, They were divided into an HJ Group (n = 15) and an HD Group (n = 8). Demographic and outcome data were compared., Results: There were no significant differences in postoperative complications (cholangitis, pancreatitis, and anastomotic stenosis) and current blood test data (AST, ALT, Total Bilirubin, Direct Bilirubin, Amylase) between the two groups. Current abdominal pain and carcinogenesis were not observed in either group. Intrahepatic stones occurred in one patient in each group, both > 25 years post-operation., Conclusion: HD is considered to be an acceptable reconstruction method compared to HJ, based on our results. There has been a suggestion that inadequate diversion in HD might increase the risk of cholangiocarcinoma. To date, in this series, that has not happened.

A heterozygous deletion at Xq27.3q28 including FMR1, AFF2, and IDS causing intellectual disability and characteristic facial features is very rare in females, with only 10 patients having been reported. Here, we examined two female patients with different clinical features harboring the Xq27.3q28 deletion and determined the chromosomal breakpoints. Moreover, we assessed the X chromosome inactivation (XCI) in peripheral blood from both patients. Both patients had an almost overlapping deletion at Xq27.3q28, however, the more severe patient (Patient 1) showed skewed XCI of the normal X chromosome (79:21) whereas the milder patient (Patient 2) showed random XCI. Therefore, deletion at Xq27.3q28 critically affected brain development, and the ratio of XCI of the normal X chromosome greatly affected the clinical characteristics of patients with deletion at Xq27.3q28. As the chromosomal breakpoints were determined, we analyzed a change in chromatin domains termed topologically associated domains (TADs) using published Hi-C data on the Xq27.3q28 region, and found that only patient 1 had a possibility of a drastic change in TADs. The altered chromatin topologies on the Xq27.3q28 region might affect the clinical features of patient 1 by changing the expression of genes just outside the deletion and/or the XCI establishment during embryogenesis resulting in skewed XCI., (© 2020 Wiley Periodicals LLC.)

Background: The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS), and Hyper IgD syndrome were analyzed in children with PFAPA., Patients and Methods: All variants in MEFV, TNFRSF1A, and MVK were analyzed in 20 patients with PFAPA. PFAPA were diagnosed by previous published criteria. The findings of all analyses in PFAPA patients were compared with those of unaffected normal subjects (n=62)., Results: In the 13 children of 20 with PFAPA, the heterozygous variants of MEFV (5 patients: E148Q-L110P, 2 patients: E148Q, 1 patient: E148Q-L110P/E148Q, 1 patient: E148Q-P369S-R408Q-E84K, 1 patient: E148Q-L110P-P369S-A408G, 1 patient: R202Q, 1 patient: P115R) were found. No variants belonging to TNFRSF1A or MVK were detected in children with PFAPA. The frequency of the E148Q-L110P variants in children with PFAPA was significantly higher than that observed in unaffected normal subjects (7/20 versus 8/62). The duration of the episodes of illness in PFAPA children with MEFV variants was shorter than that of patients without variants., Conclusion: Genes involved in the development and progression of MEFV may affect the incidence and the phenotype of PFAPA in children.

Here we report a case of bitemporal epilepsy that was well controlled after unilateral temporal lobectomy. The patient was a 31-year-old woman, who was born in an asphyxia state and had a history of a febrile convulsion. Complex partial seizure(CPS) preceded by abdominal aura appeared at the age of three. Despite anticonvulsant medication, the seizures gradually increased in frequency and sometimes developed into secondary generalized convulsions. Her scalp electroencephalogram(EEG) showed interictal spikes and seizure activities arising from the bilateral temporal lobes. No apparent lateralities in regard to the size or blood flow at the hippocampus were detected by MRI and SPECT studies. Intracranial EEG monitoring revealed that 80% of the clinical seizures originated from the left mesial temporal lobe, which was the non-dominant side for speech and memory functions as demonstrated by Wada test. Therefore, we performed a left temporal lobectomy that resulted in the complete disappearance of CPS. The present case exemplified the usefulness of intracranial EEG monitoring to clarify the dominant epileptic focus for surgery.

We report three cases of clinically diagnosed corticobasal degeneration: a 63-year-old male, a 63-year-old female and a 62-year-old female. All the three patients exhibited asymmetric limb-kinetic apraxia and extrapyramidal signs. Neuroimaging studies with MRI, 123I-IMP SPECT and FDG-PET were performed in each of the three cases and FDOPA-PET was performed in patient 1. MRI analysis showed asymmetric cortical atrophy, especially in the parietal cortex, in all the three cases. 123I-IMP SPECT analysis revealed asymmetric reduction of the cerebral blood flow, in accordance with the MRI findings. FDG-PET analysis showed marked asymmetric reduction (> or = 10%) of cerebral metabolic rates for glucose (CMRGlc) in the lateral frontal cortex, lateral posterior frontal cortex and primary motor and sensory cortex in all the patients, although the asymmetry in the thalamus which had been described as a characteristic CBD finding in previous reports was not observed in any of the patients in our study. FDOPA-PET analysis revealed reduction of uptake in both the putamen and caudate nucleus, predominantly in the caudate nucleus, which suggests that the FDOPA-PET findings correlate with the extrapyramidal signs observed in the case of the 63-year-old male.

Superior vena cava syndrome mainly associated with malignant tumors, is usually resistant to any therapy. Although mechanical dilation of narrowed lumen is ideal for relief of symptoms, conventional balloon angioplasty has not been effective method. Surgical intervention is not a good choice in patients with advanced malignant tumors. Recently developed expandable metallic stents have been adopted to superior vena cava syndrome with good results. In this article, characteristics of expandable metallic stents is reviewed, and our experience of expandable metallic stents (Gianturco stent and Wallstent) in venous system is indicated. In addition, percutaneous insertion of inferior vena cava filter (Greenfield filter) is also mentioned.

Thirty normal subjects were requested to add two numbers which were presented tachistoscopically. Two numbers were displayed either to one visual field or simultaneously one to the left and one to the right visual field. Arabic or Kanji numerals were used. Bilateral presentation was superior to unilateral presentation with both kinds of stimuli. In unilateral presentation, Arabic numbers were processed more proficiently in the left visual field and Kanji numbers in the right visual field.

Six patients were treated with transcatheter arterial embolization (TAE). Three patients suffered from intractable genital bleeding; the other three patients were preoperative cases of a stage III adenocarcinoma of the uterine cervix and two of these had gestational trophoblastic disease. Bleeding was stopped in all three cases of intractable hemorrhage; one patient rebled after 6 days. In the three preoperative cases, transcatheter arterial embolization was thought to be effective in decreasing intraoperative blood loss. There are no other reports of application of this technique to preoperative cases to decrease intraoperative blood loss in gynecological cases.

A 52-year-old male underwent right nephrectomy after a clinical diagnosis of renal cell carcinoma. He suddenly lost consciousness 3 days after the nephrectomy and expired 3 weeks later. An autopsy revealed a hemangio-blastoma in the forehead skin. Multiple cysts, cyst-adenomas and an islet cell tumor were also identified in the pancreas. Considering the presence of blindness and the familiar, prevalence of this disease, his case was diagnosed as a rare manifestation of von Hippel Lindau disease associated with renal cell carcinoma, complicated with abdominal disorders.