[Endovascular Treatment of a Ruptured Mediastinal Bronchial Artery Aneurysm].

Case 1:A 73-year-old man was transported to our hospital for evaluation of sudden onset of chest pain, back pain, and dyspnea. We initially misdiagnosed him with advanced esophageal cancer accompanied by mediastinal metastasis;however, subsequent multi-detector row computed tomography (MDR-CT) confirmed the diagnosis. We performed coil embolization of a bronchial artery aneurysm and thoracic endovascular aortic repair( TEVAR) to seal the root of the bronchial artery. Case 2:An 81-year-old woman with a one-week history of fever and cervical pain was diagnosed with a ruptured infected thoracic aneurysm. She underwent the same treatment as described in Case 1. Physicians should consider it as a differential diagnosis of mediastinal hematoma.

[Optimal Management of Stanford Type A Acute Aortic Dissection with Mesenteric Malperfusion].

The optimal management of Stanford type A accute aortic dissection (TAAAD) with mesenteric malperfusion (TAAADwM) is controversial. Our strategy of TAAADwM is open superior mesenteric artery (SMA) bypass prior to aortic repair, if we suspect TAAADwM on computed tomography (CT) scan, whatever other findings might be or not. The need of treatment of mesenteric malperfusion prior to aortic repair is not always linked with digestive symptom, lactate, intraoperative finding. The mortality of 14 patients with TAAADwM was 21.4%, which was an allowable result. Our strategy might be proper at instances of, allowable time for management of open SMA bypass, unnecessarily of endovascular treatment, confirming an enteric property and ability to respond to a rapid hemodynamic change.

[Stanford Type A Acute Aortic Dissection with Myasthenia Gravis:Report of a Case].

The patient was a 76-year-old man with myasthenia gravis (MG). He suffered from a sudden back pain, and was diagnosed with Stanford type A acute aortic dissection. We performed emergency graft replacement of the ascending aorta under cardiopulmonary bypass with hypothermic circulatory arrest. A neuromuscular blocking agent was administered only once at tracheal intubation. The operation was completed without incident. A neuromuscular antagonist was administered once just after the operation. Fifteen hours after the operation, the tracheal tube was extubated. His postoperative course was uneventful and he has been well for three years since the operation. This is a very rare surgical case report of acute aortic dissection with MG.

Paraplegia After Valvular Surgery After Remote Thoracoabdominal Aortic Aneurysm Repair.

Neurological disorders are the most unpredictable and feared complications after open surgery or endovascular aortic repair. Paraplegia because of spinal cord injury is well known after thoracoabdominal aortic surgery but not after valvular surgery. We herein present a case of paraplegia after mitral and tricuspid valve surgery in a patient with a history of surgery involving the thoracoabdominal and abdominal aorta. The paraplegia was likely caused by temporary postoperative hypotension as low as 40 mm Hg for more than 10 minutes with decreased spinal perfusion in the intensive care unit.

Upside-down and kissing stent graft techniques for late extravasation of a prosthetic graft implanted in the abdominal aorta.

Extravasation of prosthetic grafts is rare. Various anatomical problems after graft replacement might make standard endovascular treatment difficult. Use of a commercially available main body requires an adequate distance of the flow divider. An 86-year-old man developed extravasation of a graft that had been implanted in the infrarenal abdominal aorta 24 years previously. Endovascular repair with upside-down and kissing stent graft techniques using the contralateral leg was successfully performed.

[Early rehabilitation program in uncomplicated Stanford type B acute aortic dissection].

Between December 2009 and August 2011, 120 patients with uncomplicated Stanford type B acute aortic dissection( UBAD) received medical treatment. In October 2010, we initiated an early rehabilitation program for UBAD patients in an acute phase. This early rehabilitation program, which was aimed at enabling the patient to walk around the ward within 2 days, was conducted for 87 consecutive patients;the remaining 33 were subjected to the conventional rehabilitation program. Mortality was not significantly different between the 2 groups. The incidence of atelectasis, need for mechanical ventilation, and intensive care unit syndrome during medical treatment occurred in 48% (16/33), 15% ( 5/33), and 30% ( 10/33), respectively, of the conventional group and in 3.4% ( 3/87), 1.1% (1/87), and 3.4% ( 3/87), respectively, of the early rehabilitation group. The outer diameter of the aorta was dilated after 4 weeks' rehabilitation in smaller percentage of patients in the early rehabilitation group than the conventional one. Thus, the early rehabilitation program was more effective for patients with UBAD than the conventional one.

[Surgical treatment for prosthetic valve endocarditis after aortic root replacement].

Aorto-left ventricular continuity destruction due to prosthetic valve endocarditis is rare, but it is one of the fatal complications after aortic root operation. We report a case of surgical treatment for prosthetic valve endocarditis after aortic root replacement. A 47-year-old man, who had undergone aortic root replacement with a composite graft was transferred to our hospital with sudden chest pain and high fever. Enhanced computed tomography showed a large space with contrast enhancement suggesting perivalvular leakage around the artificial composite graft. Emergency operation including aortic root re-replacement and reconstruction of the left ventricular outflow tract was performed successfully. We focused on its technical aspect.

[Surgical treatment for traumatic injury of the ascending aorta and aortic arch; report of a case].

We herein report a rare case of surgical treatment for blunt traumatic injury of the ascending aorta and aortic arch. A 60-year-old male was crushed by an arm of a forklift while working. He suffered from multiple thoracic traumas, including injury of the ascending aorta and aortic arch, multiple fractures of the ribs and bilateral hemopneumothorax. An emergency surgery for aortic repair was performed because there were no other severe hemorrhagic compilations due to organ injures. There was a massive hematoma around the aortic arch, and the intimae of several parts of the distal ascending aorta and aortic arch were disrupted circumferentially. The aorta was replaced with a prosthetic graft from sinotubular junction to the aortic arch, between the left common carotid artery and the left subclavian artery. The patient's postoperative course was uneventful, and he was transferred to a rehabilitation facility on the 13th day after surgery.

[Successful surgical treatment for acute type a aortic dissection in a patient with late pregnancy].

We report a case of successful surgical treatment for acute type A aortic dissection in a patient in late pregnancy. The patient was a 42-year-old woman who was pregnant for the 1st time. She was taken to hospital with a sudden onset of chest pain at 30 weeks' gestation. She was diagnosed with acute type A aortic dissection with annuloaortic ectasia (AAE) and aortic regurgitation, and was transferred to our hospital for further treatment. Emergency cesarean section and hysterectomy were performed, followed by modified Bentall operation on the next day. The postoperative course was uneventful for both the mother and the infant. Considering the severity of acute type A aortic dissection with AAE, aortic repair might have been performed as soon as possible after cesarean section.

Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.

AIM: We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. METHODS: As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. RESULTS: The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. CONCLUSION: It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome.

A safe and rapid direct true lumen cannulation for acute type A aortic dissection.

OBJECTIVE: For the repair of acute type A aortic dissection (AADA), the optimal site of arterial cannulation remains controversial. We herein describe and investigate a technique for direct true lumen cannulation in patients with AADA. METHODS: Between January 2011 and April 2012, 176 consecutive patients underwent emergency surgery for repair of AADA using the direct true lumen cannulation. Using this method, following temporary circulatory arrest, the dissected ascending aortic wall is incised transversely and the true lumen is identified. An aortic cannula is inserted into the true lumen directly, and the ascending aorta is snared tightly. RESULTS: The manipulation was performed within 30 s in all patients. There were no technical problems with this method. The mean operative time, cardiopulmonary bypass time, cross-clamp time, and the circulatory arrest time were 241 ± 79, 158 ± 85, 123 ± 97 and 58 ± 39 min, respectively. There were no permanent neurological disorders following surgery. Seven patients (4.0 %) experienced temporary neurological disorders. Twenty-four patients (14 %) died in the hospital from several complications unrelated to technical problems of direct true lumen cannulation. CONCLUSIONS: Antegrade perfusion can be established safely and easily using the direct true lumen cannulation, which may be a promising standard arterial cannulation technique for the repair of AADA.

Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.

Pelizaeus-Merzbacher disease (PMD; MIM#312080) is a rare X-linked recessive neurodegenerative disorder. The main cause of PMD is alterations in the proteolipid protein 1 gene (PLP1) on chromosome Xq22.2. Duplications and point mutations of PLP1 have been found in 70% and 10-25% of all patients with PMD, respectively, with a wide clinical spectrum. Since the underlining genomic abnormalities are heterogeneous in patients with PMD, clarification of the genotype-phenotype correlation is the object of this study. Comprehensive genetic analyses using microarray-based comparative genomic hybridization (aCGH) analysis and genomic sequencing were applied to fifteen unrelated male patients with a clinical diagnosis of PMD. Duplicated regions were further analyzed by fiber-fluorescence in situ hybridization (FISH) analysis. Four novel and one known nucleotide alterations were identified in five patients. Five microduplications including PLP1 were identified by aCGH analysis with the sizes ranging from 374 to 951-kb. The directions of five PLP1 duplications were further investigated by fiber-FISH analysis, and all showed tandem duplications. The common manifestations of the disease in patients with PLP1 mutations or duplications in this study were nystagmus in early infancy, dysmyelination revealed by magnetic resonance imaging (MRI), and auditory brain response abnormalities. Although the grades of dysmyelination estimated by MRI findings were well correlated to the clinical phenotypes of the patients, there is no correlation between the size of the duplications and the phenotypic severity.

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

Through several large-scale screening studies for autism spectrum disorders (ASD), a common 593-kb interstitial deletion of 16p11.2 has been identified as one of the most common genomic disorders associated with ASD. In this study, a familial occurrence of the 16p11.2 deletion was identified in association with hemivertebrae. The proband was a 3-year-old boy who showed developmental delay, displayed hyperactive but not autistic behavior, and had hemivertebrae, rib anomalies, and inguinal hernia. Familial investigation revealed that his mother shared the same deletion. Under the hypothesis of the existence of an unmasked mutation in the deletion region, we analyzed the sequence of the T-box 6 gene (TBX6) included in the deletion region, but did not detect any mutation. This suggests that haploinsufficiency of TBX6 can lead to vertebral malformation in low penetrance.

Simultaneous quantification of glucosylceramide and galactosylceramide by normal-phase HPLC using O-phtalaldehyde derivatives prepared with sphingolipid ceramide N-deacylase.

We report here a method of simultaneously quantifying glucosylceramide (GlcCer) and galactosylceramide (GalCer) by normal-phase HPLC using O-phtalaldehyde derivatives. Treatment with sphingolipid ceramide N-deacylase which converts the cerebrosides in the sample to their lyso-forms was followed by the quantitative labeling of free NH(2) groups of the lyso-cerebrosides with O-phtalaldehyde. Using this method, 14.1 pmol of GlcCer and 10.4 pmol of GalCer, and 108.1 pmol of GlcCer and 191.1 pmol of GalCer were detected in zebrafish embryos and RPMI 1864 cells, respectively, while 22.2 pmol of GlcCer but no GalCer was detected in CHOP cells using cell lysate containing 100 microg of protein. Linearity for the determination of each cerebroside was observed from 50 to 400 microg of protein under the conditions used, which corresponds to approximately 10(3) to 10(5) RPMI cells and 5 to 80 zebrafish embryos. The present method clearly revealed that the treatment of RPMI cells with a GlcCer synthase inhibitor P4 resulted in a marked decrease in GlcCer but not GalCer, concomitantly with a significant decrease in the GlcCer synthase activity. On the other hand, GlcCer but not GalCer increased 2-fold when an acid glucocerebrosidase inhibitor CBE was injected into zebrafish embryos. Interestingly, the treatment of CHOP cells with ciclosporin A increased GlcCer possibly due to the inhibition of LacCer synthase. A significant increase in levels of GlcCer in fibroblasts from patients with Gaucher disease was clearly shown by the method. The proposed method is useful for the determination of GlcCer and GalCer levels in various biological samples.

Bilateral middle cerebral artery infarctions following mild varicella infection: a case report.

We report a two-year and one-month-old immunocompetent boy who developed aphasia and right hemiparesis eight months after mild varicella with only a few vesicles. Magnetic resonance images and angiography demonstrated mixed acute and old infarctions of the bilateral middle cerebral arteries. VZV-DNA was detected on polymerase chain reaction analysis of cerebral spinal fluid (CSF). He was treated with intravenous acyclovir and edaravone, and his speech and motor functions had almost recovered after two months. Cerebral lesions of the bilateral middle cerebral artery territories and virus DNA detection from CSF are rare in VZV-related vasculopathy and suggest incomplete immunoresponse to varicella in this patient.

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

We report a patient harboring a novel homozygous mutation of c.604T>G (p.F202V) in POMT2. He showed delayed psychomotor development but acquired the ability to walk at the age of 3 years and 10 months. His brain MRI was normal. No ocular abnormalities were seen. Biopsied skeletal muscle revealed markedly decreased but still detectable glycosylated forms of alpha-dystroglycan (alpha-DG). Our results indicate that mutations in POMT2 can cause a wide spectrum of clinical phenotypes as observed in other genes associated with alpha-dystroglycanopathy. Presence of small amounts of partly glycosylated alpha-DG may have a role in reducing the clinical symptoms of alpha-dystroglycanopathy.

A sensitive and reproducible fluorescent-based HPLC assay to measure the activity of acid as well as neutral beta-glucocerebrosidases.

The activity of lysosomal acid beta-glucocerebrosidase (AGC, EC 3.2.1.45), which hydrolyzes the O-glycosidic linkage between D-glucose and ceramide of glucosylceramide (GlcCer), is a marker for the diagnosis of Gaucher disease because the disease is caused by dysfunction of AGC due to mutations in the gene. The activity of AGC is potently inhibited by conduritol B epoxide (CBE), whereas CBE-insensitive nonlysosomal neutral beta-glucocerebrosidase (NGC) activities have been found in various vertebrates, including humans. We report here a new reliable method to determine AGC as well as NGC activities using normal-phase high-performance liquid chromatography (HPLC) and NBD (4-nitrobenzo-2-oxa-1,3-diazole)- or BODIPY (4,4-difluoro-4-boro-3a,4a-diaza-s-indacene)-labeled GlcCer as a substrate. The reaction products of the enzymes, C6-NBD-ceramide and C12-BODIPY-ceramide, were clearly separated from the corresponding substrates on a normal-phase column within 5 min using a different solvent system. Reaction products could be detected quantitatively at concentrations ranging from 50 fmol to 50 pmol for C6-NBD-ceramide and from 10 fmol to 5 pmol for C12-BODIPY-ceramide. V(max)/K(m) values of human fibroblast AGC for fluorescent GlcCer were much higher than those for 4-methylumbelliferyl-beta-d-glucoside (4MU-Glc), which is used prevalently for Gaucher disease diagnosis. As a result, AGC activity was detected quantitatively using fluorescent GlcCer, but not 4MU-Glc, using 5 microl of human serum or 1 x 10(4) cultured human fibroblasts. The current method clearly showed the decrease of AGC activities in fibroblasts and serum from the patient with Gaucher disease compared with normal individuals, suggesting that the method is applicable for the diagnosis of Gaucher disease. Furthermore, this method was found to be useful for measuring the activities of nonlysosomal NGC of various cells and tissues in the presence of CBE.

Laminar cortical necrosis in adrenal crisis: sequential changes on MRI.

We describe the serial magnetic resonance imaging (MRI) findings in a six-year-old girl with congenital adrenal hyperplasia, who presented with seizures and unconsciousness during a hypoadrenal crisis. Initial neuroimaging revealed the presence of brain edema with high signal changes in the fronto-parietal cortex on diffusion-weighted MRI. The brain edema worsened four days into admission, and by day 14 low-density areas were seen over the frontal lobes bilaterally using computed tomography (CT). Follow-up MRI at between one and two months of admission revealed extensive white matter lesions with high intensity on T2-weighted images (T2WI) and fluid-attenuated inversion recovery (FLAIR) images, which extended into deep cortical layers. Additionally, linear lesions with high signal change on T1-weighted imaging developed in the superficial cortical layers, with frontal predominance. This layer appeared isointense on T2WI and high intensity on FLAIR images, suggesting laminar cortical necrosis. Two months later, linear, cavitary lesions appeared in the middle cortical layers between the aforementioned superficial laminar abnormality and deep cortex/white matter lesions. The high-intensity signals in the deep cortical layers remained contiguous with the white matter lesions. This unique type of multi-layered cortical lesion may have resulted from a complex combination of hypoglycemia and hypoxia/ischemia in the setting of adrenal insufficiency.

Spontaneous remission of infantile spasms and hypsarrhythmia following acute infection with high-grade fever.

To elucidate the pathogenesis of spontaneous remission of infantile spasms (ISs) and hypsarrhythmia following infection, we reviewed 58 patients with ISs from 1986 through 2006 in our hospital. Five patients showed spontaneous remission of spasms or hypsarrhythmia following infections with high-grade fever (SR group). In control, we analyzed five patients with complete improvement of ISs for ACTH therapy (ACTH group). In the SR group, ISs stopped in an average of 4.0 days after the onset of infection. In three patients performing EEG during the infection, hypsarrhythmia disappeared within an average of 8 days after the onset of infection. In the ACTH group, ISs stopped an average of 4.6 days and hypsarrhythmia disappeared within an average of 10 days after ACTH therapy. During the remission course of ISs, low-voltage background activity (BGA) on EEG showed in one patient of the SR group and in all patients of the ACTH group. ACTH is known to the efficacy for ISs and suppression of cortical activity on human EEG. This similar remission course between in the SR group and in the ACTH group suggest neuroendocrinal products in response to infection, which is resembled ACTH-related cascade, may play a role for spontaneous remission following infection.

Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease.

Gaucher disease (GD), caused by a defect of beta-glucosidase (beta-Glu), is the most common form of sphingolipidosis. We have previously shown that a carbohydrate mimic N-octyl-beta-valienamine (NOV), an inhibitor of beta-Glu, could increase the protein level and enzyme activity of F213I mutant beta-Glu in cultured GD fibroblasts, suggesting that NOV acted as a pharmacological chaperone to accelerate transport and maturation of this mutant enzyme. In the current study, NOV effects were evaluated in GD fibroblasts with various beta-Glu mutations and in COS cells transiently expressing recombinant mutant proteins. In addition to F213I, NOV was effective on N188S, G202R and N370S mutant forms of beta-Glu, whereas it was ineffective on G193W, D409H and L444P mutants. When expressed in COS cells, the mutant proteins as well as the wild-type protein were localized predominantly in the endoplasmic reticulum and were sensitive to Endo-H treatment. NOV did not alter this localization or Endo-H sensitivity, suggesting that it acted in the endoplasmic reticulum. Profiling of N-alkyl-beta-valienamines with various lengths of the acyl chain showed that N-dodecyl-beta-valienamine was as effective as NOV. These results suggest a potential therapeutic value of NOV and related compounds for GD with a broad range of beta-Glu mutations.