Carotid Artery Stenting Using Stent-in-Stent Technique with a Closed-Cell Stent and a Dual-Layer Micromesh Stent: A Case Report.

Objective: Recent studies evaluating plaque protrusion at carotid artery stenting (CAS) using optical coherence tomography showed not a few cases of plaque protrusion when using double-layer micromesh stents. We report a case of symptomatic internal carotid artery (ICA) stenosis with at-risk unstable plaques in which CAS was successfully performed using a stent-in-stent technique by the combined use of a closed-cell stent and a dual-layer micromesh stent. Case Presentation: An 87-year-old Japanese man with dysarthria and right hemiparesis was diagnosed with atheromatous cerebral embolism caused by severe left ICA stenosis on MRI and DSA. MRI with T1-weighted black blood methods showed high intensities in the plaques of the left ICA, suggesting unstable plaque characteristics with intraplaque hemorrhage components. On day 20, CAS was performed. After the pre-stent dilation under proximal and distal protection, a Carotid WALLSTENT was placed to cover the stenotic lesion. Then, a CASPER Rx was placed from the proximal left ICA to the common carotid artery to cover the Carotid WALLSTENT. Although visible plaque debris was recognized in the aspirated blood, the debris became invisible after aspiration of 1300 mL. Postoperative angiography showed enough dilation of the left ICA, with no plaque protrusion or acute stent thrombosis. The patient had an uneventful postoperative course and was discharged without any neurological sequelae. Conclusion: The present case suggests that the combined stent-in-stent technique using a closed-cell stent and a micromesh stent can be considered as one of the treatment strategies for preventing plaque protrusion and procedural ischemic complications in patients with high-risk carotid plaques.

Successful treatment with urgent revascularization and parent artery occlusion for a ruptured intratumoral aneurysm following prior meningioma surgery: illustrative case.

BACKGROUND: An intratumoral aneurysm encased within the associated intracranial tumor is rare, and hemorrhage caused by its rupture is even more rare. While urgent and adequate surgical treatment is important, the treatment can be difficult given the limited understanding of this rare condition. OBSERVATIONS: A 69-year-old man who had undergone meningioma surgery 30 years prior presented with a disturbance in consciousness. Magnetic resonance imaging revealed massive intracerebral and subarachnoid hemorrhage. A round, partially calcified mass, which was diagnosed as recurrent meningioma, was also observed. Subsequent cerebral angiography revealed that the source of the hemorrhage was an intratumoral aneurysm in the dorsal internal carotid artery (ICA) encased within the recurrent meningioma. Urgent surgical ICA trapping and high-flow graft bypass were conducted. The postoperative course was uneventful, and he was referred to another hospital for rehabilitation. LESSONS: This is the first case report of a ruptured intratumoral aneurysm being treated with urgent combined revascularization and parent artery trapping surgery. This surgical approach may be a feasible treatment option for such a challenging condition. Additionally, this case highlights the importance of diligent long-term follow-up after skull-base surgery, as minor intraoperative vascular wall injury may trigger the development and rupture of an intracerebral aneurysm.

Clinical characteristics of endovascular treatment for acute ischemic stroke with atherosclerotic etiology: Factors associating its clinical outcome.

OBJECTIVE: Clinical characteristics of endovascular treatment (EVT) for acute ischemic stroke (AIS) secondary to atherosclerosis are not fully delineated. An optimal treatment strategy with considerations of stroke etiology has not yet been established. Here-in, we performed retrospective analysis of EVT for atherosclerotic AIS. METHODS: Data from patients with AIS who underwent EVT between 2017 and 2022 were analyzed. Clinical characteristics, procedural data, and outcomes were assessed. Further analysis was conducted to elucidate the factors associated with clinical outcomes. And data of patients with poor clinical outcomes (mRS, 5 or 6) were evaluated further to determine the primary cause. RESULTS: Among 194 patients who received EVT, 40 (20.6%) were diagnosed with AIS with an atherosclerotic etiology. The rates of successful reperfusion (TICI 2b or 3) and good clinical outcomes (mRS, 0-2) were 95.0% and 45.0%, respectively. No procedure-related complications were noted. Older age (p = 0.007), more severe baseline NIHSS score (p = 0.004), lesion in the posterior circulation (p = 0.025), and recanalization failure (p = 0.027) were more frequently observed in patients with poor clinical outcomes. Brainstem infarction and postprocedural intracerebral hemorrhage were the main reasons for poor clinical outcomes. CONCLUSION: The EVT for atherosclerotic AIS were effective and safe. Older age, more severe NIHSS score, lesions in the posterior circulation, and recanalization failure were the factors associated with poor clinical outcomes. It is important to recognize that these factors may aggravate the clinical response to this promising therapy, even in patient successful recanalization was attained.

A Case of Perimesencephalic Subarachnoid Hemorrhage with Cerebral Venous Sinus Thrombosis due to Stenosis of the Junction of the Vein of Galen and Rectus Sinus.

Perimesencephalic subarachnoid hemorrhage (PMSAH) is a group of diseases characterized by bleeding around the brainstem. In recent years, it has been suggested that PMSAH is associated with the venous system. We report a case of PMSAH caused by stenosis of the junction of the vein of Galen (VG) and the rectus sinus (RS). A 39-year-old man presented with restlessness at work. He was administered diazepam, and a few minutes later, his consciousness became clear. Imaging showed subarachnoid hemorrhage (SAH) around the right midbrain, occlusion of the right sigmoid sinus and the right transverse sinus, stenosis of the junction of the VG and RS, T2 hyperintensity in the right middle temporal gyrus, and obstruction of the right vein of Labbe. The location of the SAH coincided with stenosis of the junction of the VG and RS. PMSAH was diagnosed due to the increase in intracranial venous pressure caused by the patient's sinus obstruction in addition to the stenosis of the junction of the VG and RS. It is necessary to pay attention to venous return when PMSAH is observed.

Benefits of Hypothermia for Young Patients with Acute Subdural Hematoma: A Computed Tomography Analysis of the Brain Hypothermia Study.

Therapeutic hypothermia for severe traumatic brain injury (TBI) has been repeatedly studied, but no past studies have assessed the detailed head computed tomography (CT) findings. We sought to investigate individual CT findings of severe TBI patients treated with targeted temperature management utilizing the head CT database obtained from the Brain Hypothermia study. Enrolled patients underwent either mild therapeutic hypothermia (32.0°C-34.0°C) or fever control (35.5°C-37.0°C). We assessed individual head CT images on arrival and after rewarming and investigated the correlations with outcomes. The initial CT data were available for 125 patients (hypothermia group = 80, fever control group = 45). Baseline characteristics and CT findings, such as hematoma thickness and midline shift, were similar in all aspects between the two groups. The favorable outcomes in the hypothermia and fever control groups were 38 (47.5%) and 24 (53.3%; p = 0.53) for all 125 patients, respectively; 21 (46.7%) vs. 10 (38.5%; p = 0.50) for 71 patients with acute subdural hematoma (SDH), respectively; and 12 (75.0%) vs. 4 (36.4%; p = 0.045) in 27 young adults (≤50 years) with acute SDH, respectively. There was a trend toward favorable outcomes for earlier time to reach 35.5°C (190 vs. 377 min, p = 0.052) and surgery (155 vs. 180 min, p = 0.096) in young patients with acute SDH. The second CT image revealed progression of the brain injury. This study demonstrated the potential benefits of early hypothermia in young patients with acute SDH, despite no difference in CT findings between the two groups. However, the small number of cases involved hindered the drawing of definitive conclusions. Future studies are warranted to validate the results.

Preoperatively estimated graft flow rate contributes to the improvement of hemodynamics in revascularization for Moyamoya disease.

OBJECTIVES: Superficial temporal artery (STA)-middle cerebral artery (MCA) bypass operation is an effective treatment for patients with Moyamoya disease, and the hemodynamic parameters are reported to be improved after operation. However, there is no report concerning hemodynamic changes from the viewpoint of the preoperative anatomical structure of grafts. In this study, we evaluated the correlation between the preoperatively estimated blood flow of the graft obtained through image-based computational fluid dynamics (CFD) analysis and the hemodynamic changes in the acute phase after revascularization. MATERIALS AND METHODS: A total of 30 hemispheric sides of 23 patients were examined. The blood flow, that is, flow rate (FR) of the STA branches that were anastomosed to the MCA was evaluated using CFD analysis based on computed tomography (CT) angiography imaging data. The correlations between the FR and the hemodynamic changes in the acute phase after revascularization obtained through CT perfusion were assessed. RESULTS: The preoperatively estimated FR of the graft was moderately correlated with the changes in the mean transit time significantly and weakly correlated with those in the cerebral blood flow and cerebral blood volume. In addition, the FR was strongly correlated with age and the diameter of the STA from the origin to the bifurcation. CONCLUSION: The preoperatively estimated FR of the graft obtained through image-based CFD analysis contributed to the improvement of the mean transit time after revascularization. Because the FR of the graft was associated with the diameter of the STA, the size of the STA might be an important factor in postoperative hemodynamic changes. This might lead to the risk assessment of acute drastic hemodynamic changes as cerebral hyperperfusion, and consequently, better surgical outcomes might be expected.

Gasping during refractory out-of-hospital cardiac arrest is a prognostic marker for favourable neurological outcome following extracorporeal cardiopulmonary resuscitation: a retrospective study.

BACKGROUND: Gasping during cardiac arrest is associated with favourable neurological outcomes for out-of-hospital cardiac arrest. Moreover, while extracorporeal cardiopulmonary resuscitation (ECPR) performed for refractory cardiac arrest can improve outcomes, factors for favourable neurological outcomes remain unknown. This study aimed to examine whether gasping during cardiac arrest resuscitation during transport by emergency medical services (EMS) was independently associated with a favourable neurological outcome for patients who underwent ECPR. This retrospective study was based on medical records of all adult patients who underwent ECPR due to refractory cardiac arrest. The primary endpoint was neurologically intact survival at discharge. The study was undertaken at Sapporo Medical University Hospital, a tertiary care centre approved by the Ministry of Health, Labour and Welfare, located in the city of Sapporo, Japan, between January 2012 and December 2018. RESULTS: Overall, 166 patients who underwent ECPR were included. During transportation by EMS, 38 patients exhibited gasping, and 128 patients did not. Twenty patients who exhibited gasping during EMS transportation achieved a favourable neurological outcome (20/38; 52.6%); 14 patients who did not exhibit gasping achieved a favourable neurological outcome (14/128; 10.9%). Gasping during transportation by EMS was independently associated with favourable neurological outcome irrespective of the type of analysis performed (multiple logistic regression analysis, odds ratio [OR] 9.52; inverse probability of treatment weighting using propensity score, OR 9.14). CONCLUSIONS: The presence of gasping during transportation by EMS was independently associated with a favourable neurological outcome in patients who underwent ECPR. The association of gasping with a favourable neurological outcome in patients with refractory cardiac arrest suggests that ECPR may be considered in such patients.

Arterial transit artifacts observed by arterial spin labeling in Moyamoya disease.

OBJECTIVES: Arterial spin labeling (ASL) is a magnetic resonance imaging (MRI) technique used to assess cerebral perfusion. When tissue perfusion is impaired, such as in Moyamoya disease, a hyperintense band called the arterial transit artifact (ATA) may occur, which interferes with accurate measurements on ASL-MRI. In this study, we evaluated the correlation of ATAs with magnetic resonance angiography (MRA) and single-photon emission computed tomography (SPECT) imaging results in Moyamoya disease. The aim of our study was to elucidate the pathophysiology of ATAs and risk factors for high ATA scores. MATERIALS AND METHODS: This retrospective study included 28 patients (56 hemispheres) with Moyamoya disease treated at our institution. MRI, MRA, ASL perfusion, and N-isopropyl-[123I] b-iodoamphetamine (123I-IMP) SPECT were performed. In order to semi-quantitatively evaluate the degree of ATA, the ATA scores were measured according to the number of hyperintense signal bands in the cerebral cortex. The relationship between the ATA scores and clinical and radiological factors were analyzed. RESULTS: Regional cerebral blood flow (rCBF) determined with ASL weakly correlated with that determined by 123I-IMP SPECT (ρ=0.31, p=0.027). There was no significant association between the ATA scores and rCBF values determined with 123I-IMP SPECT (p=0.872, 0.745, 0.743 at PLD1000 (post-labeling delay), 1500, and 2000, respectively). However, there was a significant correlation between ATA scores and MRA scores (ρ=0.427 p=0.001; ρ=0.612 p=0.001; ρ=0.563 p=0.001 at PLD1000, 1500, and 2000, respectively). An analysis of patient background characteristics revealed a significantly higher incidence of high ATA scores in female patients, patients with high MRA scores, and patients with a distinguishable ivy sign. A multivariate analysis confirmed that female sex, high MRA score, and presence of an ivy sign were risk factors for high ATA scores. CONCLUSION: ATA scores were moderately correlated with MRA scores, and presence of an ivy sign was the most predictive factor for high ATA scores. A high ATA score determined using ASL in a patient with Moyamoya disease might suggest an advanced disease stage and a reduction in cerebrovascular reserve capacity.

Ischemic Tolerance Evaluated by Computed Tomography Perfusion during Balloon Test Occlusion.

OBJECTIVES: Balloon test occlusion (BTO) is performed to evaluate ischemic tolerance for large and giant cerebral aneurysms and head and neck tumors that may require parent artery occlusion. However, ischemic tolerance for the temporary test occlusion does not always guarantee a tolerance for permanent occlusion. In this study, we evaluated the utility of computed tomography (CT) perfusion during BTO to quantify ischemic tolerance for detecting delayed ischemic stroke. MATERIALS AND METHODS: Forty-one patients who underwent BTO for the internal carotid artery were included. The correlations between the parameters of CT perfusion and collateral angiographic appearance or stump pressure during BTO were evaluated. The cerebral blood flow (CBF), cerebral blood volume, mean transit time (MTT), and time to peak (TTP) were obtained through CT perfusion, and the asymmetry ratios were determined. Collateral angiographic appearances were categorized into 5 grades (0-4). RESULTS: The collateral angiographic appearance showed moderate correlations with CBF, MTT, and TTP that was significant. Of these, the absolute value of the correlation coefficient was the highest for MTT. MTT also showed a moderate correlation with stump pressure. CBF and MTT were significantly different between the poor collateral group (grades 2 and 3) and the good collateral group (grade 4). Based on the MTT, the good collateral group was identified with high sensitivity (75.0%) and specificity (81.2%). CONCLUSIONS: In BTO, the MTT obtained through CT perfusion showed a correlation with collateral angiographic appearance and stump pressure. Thus, the MTT might be useful to quantify ischemic tolerance for detecting delayed ischemic stroke.

Prognostic Significance of the Difference Between Mixed and Jugular Venous Oxygen Saturation After Severe Traumatic Brain Injury: A Post Hoc Analysis of the Brain Hypothermia Study.

BACKGROUND: In patients postcardiac arrest, it has been reported that the small value of the difference between mixed venous oxygen saturation (Svo2) and jugular venous oxygen saturation (Sjvo2) is associated with poor neurologic outcome. However, the importance of the difference between mixed venous oxygen saturation and jugular venous oxygen saturation (ΔSo2 [v - jv]) remains unknown in severe traumatic brain injury (TBI). The aim of this study was to examine whether ΔSo2 (v - jv) is associated with neurologic outcome and mortality in patients with severe TBI. METHODS: We conducted post hoc analyses of the Brain Hypothermia Study, a multicenter randomized controlled trial of mild therapeutic hypothermia for the treatment of severe TBI. The value of ΔSo2(v - jv) on day 1 and day 3 was compared between survivors (n = 65) and nonsurvivors (n = 25) or between patients with favorable (n = 47) and unfavorable (n = 43) neurologic outcomes. RESULTS: The reduction in ΔSo2 (v - jv) on day 3 was -2.0% (range, -6.9% to 6.5%) in the nonsurvivor group and 6.3% (range, -2.5% to 16.7%) in the survivor group. The difference was statistically significant (P = 0.03). The same tendencies were observed in the nonsurvivor group on day 1 and in the unfavorable neurologic outcome group on day 1 and day 3, but the difference was not significant. CONCLUSIONS: The reduction in ΔSo2(v - jv) on day 3 was associated with high mortality in patients with severe TBI.

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

The COL2A1 gene encodes the alpha-1 chain of procollagen type 2. Pathogenic variants in the COL2A1 gene are associated with several different types of skeletal dysplasia collectively known as type 2 collagenopathies. Type 2 collagenopathies have an autosomal dominant inheritance. Some germline or somatogonadal mosaicism cases have been reported. We investigated whether somatogonadal mosaicism occurred in a family with two children suspected of type 2 collagenopathies or related diseases. First, we detected a pathogenic variant in the COL2A1 gene in the two affected children by whole exome sequencing (WES). Next, we performed targeted deep sequencing to their parents without the variant by WES. A low level of COL2A1 mosaicism was revealed in the mother's tissues. We concluded that the mother had somatogonadal mosaicism with the COL2A1 mutation arose in the epiblast, and that the intrafamilial recurrence rate of the disease by the somatogonadal mosaicism was higher than by the germline mosaicism. This report suggests that parental low-level mosaicism should be evaluated in those parents with children carrying de novo germline mutations and the targeted deep sequencing is useful to detect them.

Endovascular treatment of asymptomatic free-floating thrombus in the carotid artery bifurcation: a direct aspiration first-pass technique under double balloon protection.

Free-floating thrombus (FFT) in the carotid artery has been reported as a rare cause of acute ischaemic stroke. There are various treatment strategies, but higher risk of distal embolism may limit their applicability. A 77-year-old woman noticed right upper arm weakness. A CT angiogram revealed that a large floating thrombus had strayed across the carotid bifurcation, while another thrombus was present in the right axillary artery. As for the carotid FFT, in spite of anticoagulation therapy, the number of asymptomatic microthrombuses gradually increased on diffusion-weighted MRI. We performed endovascular therapy utilising two temporary occlusion balloon catheters and performed direct aspiration with a reperfusion catheter. The procedure was uneventful. We successfully performed a new endovascular technique for FFT in the carotid bifurcation. Our method is effective, minimally invasive and safe.

Elderly-onset acute necrotizing encephalopathy mimicking severe heat stroke: a case report and review of the literature.

BACKGROUND: Acute necrotizing encephalopathy (ANE), known as influenza-associated encephalitis, typically affects children. CASE PRESENTATION: A 70-year-old woman was admitted to the hospital with altered consciousness, a high temperature, and severe hypotension. Computed tomography (CT) of the head showed no abnormalities; thus, a diagnosis of suspected severe heat stroke was made. On day 2, repeated head CT revealed bilateral symmetrical lesions to the thalamus, and a rapid influenza antigen test was positive. Based on the CT findings and the medical history of influenza, a differential diagnosis of ANE was made. Subsequently, brain edema spread across the whole brain, and the patient died on day 21. CONCLUSION: In elderly patients, differentiating ANE from severe heat stroke in a high-temperature environment is difficult because of the similarities in clinical symptoms due to multiple organ failure.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Congenital generalized lipodystrophy type 4 (CGL4) is a rare disease caused by mutations in the gene polymerase I and transcript release factor (PTRF), the main symptoms of which are systemic reductions in adipose tissue and muscular dystrophy. The strategy of treating CGL4 is to improve the insulin resistance and hypertriglyceridemia that result from systemic reductions in adipose tissue. Metreleptin, a synthetic analog of human leptin, is effective against generalized lipodystrophies; however, there are no reports of the use of metreleptin in the treatment of CGL4. Herein, we discuss the treatment of a six-year-old boy diagnosed with CGL4 due to a homozygous mutation in PTRF with metreleptin. His serum triglyceride level and homeostasis model assessment of insulin resistance (HOMA-IR) value decreased after two months of metreleptin treatment. However, the efficacy of metreleptin gradually decreased, and the treatment was suspended because anaphylaxis occurred after the dosage administered was increased. Subsequently, his serum triglyceride level and HOMA-IR value significantly increased. Anti-metreleptin-neutralizing antibodies were detected in his serum, which suggested that these antibodies reduced the efficacy of metreleptin and caused increased hypersensitivity. Thus, metreleptin appeared to be efficacious in the treatment of CGL4 in the short term, although an adverse immune response resulted in treatment suspension. Further studies are needed to evaluate metreleptin treatments for CGL4.

Vascular assessment after clipping surgery using four-dimensional CT angiography.

Recent advances in computed tomography angiography (CTA) enable repeated imaging follow up for post-clipping surgery. The purpose of this study was to clarify the critical volume and configuration of the aneurysmal clip in the postoperative evaluation using volume rendering (VR) imaging, and present four-dimensional (4D)-CTA for these larger metal artifacts. A total of 44 patients with cerebral aneurysm, treated using clipping surgery, were included in this study. The metal artifact volume was assessed using CTA and the association between the type of clips and its metal artifact volume was analyzed. A VR image and a 4D-CTA were then produced, and the diagnostic accuracy of arteries around the clip or residual aneurysm on these images was evaluated. In the receiver operating characteristic (ROC) curve analysis, the cutoff value for metal artifacts was 2.32 mm3 as determined through a VR image. Patients were divided into two groups. Group 1 included patients with a simple and small clip, and group 2 included patients with multiple, large or fenestrated clips. The metal artifact volume was significantly larger in group 2, and the group incorporated the cutoff value. Post-clipping status on the VR image was significantly superior in group 1 compared with group 2. In group 2, the imaging quality of post-clipping status on 4D-CTA was superior in 92.9% of patients. The metal artifact volume was dependent on the number, size, or configuration of the clip used. In group 2, evaluation using a 4D-CTA eliminated the effect of the metal artifacts.

Flattening the curvature of synthetic materials to relieve scalp skin tension in cranioplasty.

BACKGROUND: Scalp tissue shrinkage and volume contraction is a major problem in cranioplasty, and sometimes a tissue expander must be set before cranioplasty. The procedure for placing scalp expanders is cumbersome. In this study, we present a method for flattening the curvature of synthetic materials to relieve scalp skin tension and discuss the feasibility and limitations of the method. METHODS: A total of 25 cranioplasty patients were included in this study. The optimal degree of curvature flattening for each piece of bone substitute material was determined based on cosmetic considerations and the extent of encephalomalacia or atrophy due to primary disease. In this series, the correlation between the degree of curvature flattening and the size or location of the bone flap was considered, and the amount of scalp surface area that could be obtained through curvature flattening was estimated. RESULTS: The median degree of curvature flattening was 5.0 mm. The degree of curvature flattening showed moderate correlation with the rate of change in the area of synthetic material achieved through curvature flattening (p < 0.001). The 21 cases of fronto-temporal craniectomy were divided into two groups according to the distance from the midline. There was a statistically significant difference between these two groups in degree of flattening curvature. CONCLUSIONS: In the present cranioplasty series using synthetic materials, curvature flattening was a non-invasive and convenient method for skin closure. This method can be beneficial especially in patients requiring a larger craniotomy including convexity regions.

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

Monocarboxylate transporter 8 (MCT8) facilitates T3 uptake into cells. Mutations in MCT8 lead to Allan-Herndon-Dudley syndrome (AHDS), which is characterized by severe psychomotor retardation and abnormal thyroid hormone profile. Nine uncharacterized MCT8 mutations in Japanese patients with severe neurocognitive impairment and elevated serum T3 levels were studied regarding the transport of T3. Human MCT8 (hMCT8) function was studied in wild-type (WT) or mutant hMCT8-transfected human placental choriocarcinoma cells (JEG3) by visualizing the locations of the proteins in the cells, detecting specific proteins, and measuring T3 uptake. We identified 6 missense (p.Arg445Ser, p.Asp498Asn, p.Gly276Arg, p.Gly196Glu, p.Gly401Arg, and p.Gly312Arg), 2 frameshift (p.Arg355Profs*64 and p.Tyr550Serfs*17), and 1 deletion (p.Pro561del) mutation(s) in the hMCT8 gene. All patients exhibited clinical characteristics of AHDS with high free T3, low-normal free T4, and normal-elevated TSH levels. All tested mutants were expressed at the protein level, except p.Arg355Profs*64 and p.Tyr550Serfs*17, which were truncated, and were inactive in T3 uptake, excluding p.Arg445Ser and p.Pro561del mutants, compared with WT-hMCT8. Immunocytochemistry revealed plasma membrane localization of p.Arg445Ser and p.Pro561del mutants similar with WT-hMCT8. The other mutants failed to localize in significant amount(s) in the plasma membrane and instead localized in the cytoplasm. These data indicate that p.Arg445Ser and p.Pro561del mutants preserve residual function, whereas p.Asp498Asn, p.Gly276Arg, p.Gly196Glu, p.Gly401Arg, p.Gly312Arg, p.Arg355Profs*64, and p.Tyr550Serfs*17 mutants lack function. These findings suggest that the mutations in MCT8 cause loss of function by reducing protein expression, impairing trafficking of protein to plasma membrane, and disrupting substrate channel.

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Cole-Carpenter syndrome is a rare skeletal dysplasia associated with low-bone mass or an osteogenesis imperfecta (OI)-like syndrome. Only 3 and 6 variants in SEC24D have been reported in patients with Cole-Carpenter syndrome type 2 and autosomal recessive OI, respectively. We describe a 15-year-old Japanese boy with short stature of the short-trunk type and craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. These features were consistent with a diagnosis of Cole-Carpenter syndrome. He had low-bone mineral density and basilar impression. Whole exome sequencing analysis identified biallelic variants in SEC24D (p.Arg484* and p.Arg313His) in the patient. We will report a patient with compound heterozygous variants of SEC24D causing Cole-Carpenter syndrome type 2.

Traumatic Basilar Artery Entrapment without Longitudinal Clivus Fracture: A Case Report and Review of the Literature.

In blunt cerebrovascular injury, reported traumatic basilar artery occlusions have involved dissection of the basilar artery, distal embolization due to traumatic vertebral artery dissection, or entrapment of the basilar artery into the clivus fracture. To date, however, there are no reports of traumatic basilar artery entrapment without a clivus fracture. Here, we report the first case of traumatic basilar artery occlusion caused by entrapment into an originally existing bone defect. A 67-year-old man with a history of treatment for intracranial aneurysm suffered multiple traumatic injuries in a fall. On arrival at our hospital, he presented with neurogenic shock with quadriplegia. Computed tomography (CT) showed small epidural hematoma, C4-6 cervical spinous process fracture, and Th2-3 vertebral body fracture. CT angiography revealed occlusion of the basilar artery trunk. As vertebrobasilar artery dissections and clivus fracture were not observed; however, we could not elucidate the pathology of the basilar artery occlusion. On day 4, after surgery for the cervical and thoracic lesions, he exhibited consciousness disturbance. Diffusion-weighted imaging on day 5 showed hyperintensities in the brainstem and cerebellum. Basi-parallel anatomic scanning magnetic resonance imaging showed that the basilar artery, while lacking vascular wall injuries, was tethered into the clivus. Antithrombotic therapy was performed, but the patient progressed to a locked-in state. Previous head CT before the trauma revealed a bone defect already present in the clivus. We speculated basilar artery entrapment into this preexisting bone defect. We must look for basilar artery injury in trauma patients even in the absence of clivus fracture.

Arterial Spin Labeling Method as a Supplemental Predictor to Distinguish Between High- and Low-Grade Gliomas.

BACKGROUND: Preoperative evaluation of malignancy in gliomas is important for surgical planning, particularly to determine whether a 1,3-bis-2-chloroethyl-1-nitrosourea wafer should be placed into the tumor cavity. In some cases, the intraoperative pathologic diagnosis of World Health Organization grade differs from the final diagnosis. Supplemental methods in addition to the routine contrast tomography or magnetic resonance imaging sequences may provide a more accurate preoperative diagnosis. Because tumor vascularity has been useful in distinguishing between low- and high-grade gliomas, we evaluated the accuracy of the arterial spin labeling (ASL) method, which could measure the cerebral blood flow (CBF) without using contrast medium, to determine the malignancy of gliomas. METHODS: This study included 102 patients with glioma (grade II, n = 40; grade III, n = 18; grade IV, n = 44). All patients underwent ASL to determine the tumor blood flow (TBF) and CBF in the middle cerebral region. The relative tumor vascular index (tVI), which is calculated as TBF divided by CBF in the contralateral middle cerebral region, was used to avoid dispersion of the absolute TBF value. RESULTS: tVI was significantly greater (1.46 ± 0.751) in high-grade gliomas than in low-grade gliomas (1.05 ± 0.343) (P = 0.003). As for each grade, tVI was statistically higher in grade IV than in grade II (P = 0.03) gliomas. CONCLUSIONS: The noninvasive ASL method provides additional information to distinguish high-grade glioma from low-grade gliomas without using contrast medium.