RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.

Moyamoya disease (MMD) is a cerebrovascular disorder that is predominantly observed in women of East Asian descent, and is characterized by progressive stenosis of the internal carotid artery, beginning in early childhood, and a distinctive network of collateral vessels known as "moyamoya vessels" in the basal ganglia. Additionally, a prevalent genetic variant found in most MMD cases is the p.R4810K polymorphism of RNF213 on chromosome 17q25.3. Recent studies have revealed that RNF213 mutations are associated not only with MMD, but also with other systemic vascular disorders, including intracranial atherosclerosis and systemic vascular abnormalities such as pulmonary artery stenosis and coronary artery diseases. Therefore, the concept of "RNF213-related vasculopathy" has been proposed. This review focuses on polymorphisms in the RNF213 gene and describes a wide range of clinical and genetic phenotypes associated with RNF213-related vasculopathy. The RNF213 gene has been suggested to play an important role in the pathogenesis of vascular diseases and developing new therapies. Therefore, further research and knowledge sharing through collaboration between clinicians and researchers are required.

[Initial Treatment of Subarachnoid Hemorrhage].

The re-rupture of a subarachnoid hemorrhage(SAH)due to a ruptured cerebral aneurysm is a poor prognostic factor, and initial treatment to prevent re-rupture is important in the acute phase of SAH. Prevention of re-rupture is performed by reducing blood pressure, by sedation, and by analgesia until the patient undergoes radical surgery. It is recommended that the systolic blood pressure be lowered to below 120-140 mmHg. When SAH is suspected, a head CT scan should be obtained after the initial treatment. If the SAH is not clearly visible on CT but is strongly suspected, MRI should be performed. Once a SAH is diagnosed, three-dimensional CT angiography should be performed to search for cerebral aneurysms. SAHs may also cause breathing and circulation problems due to neurogenic pulmonary edema and Takotsubo cardiomyopathy. Clipping is more curative than coil embolization, but coil embolization has been shown to have better long-term survival and independence rates than clipping for aneurysms that can be treated with either technique. Ideally, ruptured cerebral aneurysms should be treated at institutions that offer both clipping and coil embolization, and the choice of treatment should be based on a comprehensive assessment of the patient's age; the severity, location, size and shape of the aneurysm; the clipping and coil embolization techniques of the treating physician; and the wishes of the patient and family.

A Case of Ruptured Carotid Traumatic Blood Blister-like Aneurysm.

Ruptured cerebral aneurysms that occur in the anterior wall of the internal carotid artery (ICA) are known as blood blister-like aneurysms (BBAs); they have been reported to account for 0.3% to 1% of all ruptured ICA aneurysms. In this report, we describe the treatment of an unusual traumatic BBA (tBBA) with high-flow bypass using a radial artery graft, which resulted in a favorable outcome. A 59-year-old female suffered from an acute epidural hematoma, traumatic subarachnoid hemorrhage, and traumatic carotid-cavernous sinus fistula (tCCF) after being involved in a motor vehicle accident. Her angiography results showed tCCF and a tBBA on the anterior wall of the right ICA. On the fourth day after injury, we found rebleeding from the tBBA and performed an emergency high-flow bypass using a radial artery graft with lesion trapping as a curative procedure for the tCCF and tBBA. Postoperatively, right abducens nerve palsy appeared, but no other neurological symptoms were noted; the patient was thereafter transferred to a rehabilitation hospital 49 days after injury. Traumatic ICA aneurysms commonly occur close to the anterior clinoid process, form within 1 to 2 weeks of injury, and often rupture around 2 weeks after trauma. This case was considered rare as the ICA was likely injured and bleeding at the time of injury, resulting in a form of tBBA; this allowed early detection and appropriate treatment that resulted in a good outcome.

Spontaneous middle cerebral artery dissection: a series of six cases and literature review.

Middle cerebral artery (MCA) dissection is rare, and various clinical presentations, including hemorrhage, ischemia, or comorbidities, and the changes in imaging findings over time hinder treatment decisions. The European Stroke Organization guidelines exclude MCA dissection. Few cases have been reported with no review of the relevant literature. Therefore, we reviewed the relevant literature and our own experience with non-traumatic MCA dissection cases to determine appropriate treatment strategies. At our institution and affiliated institutions, we encountered six cases of MCA dissection-five with infarction and one with hemorrhage. Two patients underwent revascularization, and one underwent an aneurysmectomy. We reviewed English and Japanese articles in PubMed and Medical Journal Web and summarized the results based on the relationships among age, sex, location, the presence of an aneurysm, the presence of angiography, history, treatment, and mode of onset. The clinical course, changes in imaging, treatment strategies, and prognosis were discussed. Eighty cases were included in the review. Cerebral aneurysms were more common distal to the M2 area (p = 0.00) and were correlated with hemorrhage (p < 0.001). Most hemorrhagic cases with aneurysms were treated surgically, while ischemic cases were treated with antithrombotic agents, and both had a similar neurological prognosis. There were some cases of rebleeding after antithrombotic therapy, especially in older adults.Surgical treatment is recommended in cases of hemorrhage and confirmed aneurysms, particularly for lesions distal to the M2 area. Patients with aneurysm-associated ischemia should be followed up, and antithrombotic treatment should be considered with particular care in older adults.

Ventilator management and risk of air leak syndrome in patients with SARS-CoV-2 pneumonia: a single-center, retrospective, observational study.

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pneumonia is reportedly associated with air leak syndrome (ALS), including mediastinal emphysema and pneumothorax, and has a high mortality rate. In this study, we compared values obtained every minute from ventilators to clarify the relationship between ventilator management and risk of developing ALS. METHODS: This single-center, retrospective, observational study was conducted at a tertiary care hospital in Tokyo, Japan, over a 21-month period. Information on patient background, ventilator data, and outcomes was collected from adult patients with SARS-CoV-2 pneumonia on ventilator management. Patients who developed ALS within 30 days of ventilator management initiation (ALS group) were compared with those who did not (non-ALS group). RESULTS: Of the 105 patients, 14 (13%) developed ALS. The median positive-end expiratory pressure (PEEP) difference was 0.20 cmH2O (95% confidence interval [CI], 0.20-0.20) and it was higher in the ALS group than in the non-ALS group (9.6 [7.8-20.2] vs. 9.3 [7.3-10.2], respectively). For peak pressure, the median difference was -0.30 cmH2O (95% CI, -0.30 - -0.20) (20.4 [17.0-24.4] in the ALS group vs. 20.9 [16.7-24.6] in the non-ALS group). The mean pressure difference of 0.0 cmH2O (95% CI, 0.0-0.0) (12.7 [10.9-14.6] vs. 13.0 [10.3-15.0], respectively) was also higher in the non-ALS group than in the ALS group. The difference in single ventilation volume per ideal body weight was 0.71 mL/kg (95% CI, 0.70-0.72) (8.17 [6.79-9.54] vs. 7.43 [6.03-8.81], respectively), and the difference in dynamic lung compliance was 8.27 mL/cmH2O (95% CI, 12.76-21.95) (43.8 [28.2-68.8] vs. 35.7 [26.5-41.5], respectively); both were higher in the ALS group than in the non-ALS group. CONCLUSIONS: There was no association between higher ventilator pressures and the development of ALS. The ALS group had higher dynamic lung compliance and tidal volumes than the non-ALS group, which may indicate a pulmonary contribution to ALS. Ventilator management that limits tidal volume may prevent ALS development.

Cerebral edema associated with diabetic ketoacidosis: Two case reports.

Background: Diabetic ketoacidosis (DKA) is associated with a high mortality rate, especially if cerebral edema develops during the disease course. It is rarer and more severe in adults than in children. We present cases of two patients with cerebral edema-related DKA. Case presentation: The first patient was a 38-year-old man with diabetes mellitus who presented with DKA-related disturbed consciousness. Although glycemic correction was performed slowly, he showed pupil dilation 11 h later. He underwent emergency ventricular drainage, but died of cerebral herniation. The second patient was a 25-year-old woman who presented with impaired consciousness secondary to DKA. Head computed tomography showed subarachnoid hemorrhage and cerebral edema. No related intraoperative findings were observed; it was concluded that the first computed tomography scan revealed pseudo-subarachnoid hemorrhage. Conclusion: Diabetic ketoacidosis-related cerebral edema develops despite treatment according to guidelines and is difficult to predict. Therefore, adult patients should be treated cautiously during DKA management.

Heat stroke management during the COVID-19 pandemic: Recommendations from the experts in Japan (2nd edition).

Both coronavirus disease 2019 (COVID-19) and heat stroke have symptoms of fever or hyperthermia and the difficulty in distinguishing them could lead to a strain on emergency medical care. To mitigate the potential confusion that could arise from actions for preventing both COVID-19 spread and heat stroke, particularly in the context of record-breaking summer season temperatures, this work offers new knowledge and evidence that address concerns regarding indoor ventilation and indoor temperatures, mask wearing and heat stroke risk, and the isolation of older adults. Specifically, the current work is the second edition to the previously published guidance for handling heat stroke during the COVID-19 pandemic, prepared by the "Working group on heat stroke medical care during the COVID-19 epidemic," composed of members from four organizations in different medical and related fields. The group was established by the Japanese Association for Acute Medicine Heatstroke and Hypothermia Surveillance Committee. This second edition includes new knowledge, and conventional evidence gleaned from a primary selection of 60 articles from MEDLINE, one article from Cochrane, 13 articles from Ichushi, and a secondary/final selection of 56 articles. This work summarizes the contents that have been clarified in the prevention and treatment of infectious diseases and heat stroke to provide guidance for the prevention, diagnosis, and treatment of heat stroke during the COVID-19 pandemic.

Rapidly progressive cerebral atrophy following a posterior cranial fossa stroke: Assessment with semiautomatic CT volumetry.

BACKGROUND: The effect of posterior cranial fossa stroke on changes in cerebral volume is not known. We assessed cerebral volume changes in patients with acute posterior fossa stroke using CT scans, and looked for risk factors for cerebral atrophy. METHODS: Patients with cerebellar or brainstem hemorrhage/infarction admitted to the ICU, and who underwent at least two subsequent inpatient head CT scans during hospitalization were included (n = 60). The cerebral volume was estimated using an automatic segmentation method. Patients with cerebral volume reduction > 0% from the first to the last scan were defined as the "cerebral atrophy group (n = 47)," and those with ≤ 0% were defined as the "no cerebral atrophy group (n = 13)." RESULTS: The cerebral atrophy group showed a significant decrease in cerebral volume (first CT scan: 0.974 ± 0.109 L vs. last CT scan: 0.927 ± 0.104 L, P < 0.001). The mean percentage change in cerebral volume between CT scans in the cerebral atrophy group was -4.7%, equivalent to a cerebral volume of 46.8 cm3, over a median of 17 days. The proportions of cases with a history of hypertension, diabetes mellitus, and median time on mechanical ventilation were significantly higher in the cerebral atrophy group than in the no cerebral atrophy group. CONCLUSIONS: Many ICU patients with posterior cranial fossa stroke showed signs of cerebral atrophy. Those with rapidly progressive cerebral atrophy were more likely to have a history of hypertension or diabetes mellitus and required prolonged ventilation.

Gender-related differences in the coagulofibrinolytic responses and long-term outcomes in patients with isolated traumatic brain injury: A 2-center retrospective study.

Coagulation function differs by gender, with women being characterized as more hypercoagulable. Even in the early stages of trauma, women have been shown to be hypercoagulable. Several studies have also examined the relationship between gender and the prognosis of trauma patients, but no certain conclusions have been reached. Patients with isolated traumatic brain injury (iTBI) are known to have coagulopathy, but no previous studies have examined the gender differences in detail. This is a retrospective analysis of a prospective registry conducted at 2 centers. The study included adult patients with iTBI enrolled from April 2018 to March 2021. Coagulofibrinolytic markers were measured in each patient at 1 hour, 24 hours, 3 days, and 7 days after injury, and neurological outcomes were assessed with the Glasgow Outcome Scale Extended at 6 months. Subgroup analysis was also performed by categorizing patients into groups according to neurological prognosis or age at 50 years. Males (n = 31) and females (n = 21) were included in the analysis. In males, there was a significant difference in the levels of activated partial thromboplastin time (P = .007), fibrin/fibrinogen degradation products (P = .025), D-dimer (P = .034), α2-plasmin inhibitor (P = .030), plasmin-α2-plasmin inhibitor complex (P = .004) at 1 hour after injury between favorable and unfavorable long-term neurological outcome groups, while in females there was no significant difference in these markers between 2 groups. In the age group under 50 years, there were significant gender differences in fibrinogen (day 3: P = .018), fibrin/fibrinogen degradation products (1 hour: P = .037, day 3: P = .009, day 7: P = .037), D-dimer (day 3: P = .005, day 7: P = .010), plasminogen (day 3: P = .032, day 7: P = .032), and plasmin-α2-plasmin inhibitor complex (day 3: P = .001, day 7: P = .001), and these differences were not evident in the age group over 50 years. There were differences in coagulofibrinolytic markers depending on gender in patients with iTBI. In male patients, aggravation of coagulofibrinolytic markers immediately after traumatic brain injury may be associated with poor neurologic outcome 6 months after injury.

Two Cases of Bronchial Artery Racemose Hemangioma Successfully Treated with Bronchial Artery Embolization.

Rupture of a racemose hemangioma causing dilatation and tortuosity of the bronchial artery can result in massive bleeding and respiratory failure. Bronchial artery embolization (BAE) can treat this life-threatening condition, as we show in two cases. The first case was of an 89-year-old female complaining of sudden-onset chest and back pain. Bronchial artery angiography demonstrated a racemose hemangioma with a 2 cm aneurysm. The second case was of a 50-year-old male with hemoptysis and dyspnea, eventually requiring intubation. Bronchial arteriography showed a racemose hemangioma and a bronchial artery-pulmonary arterial fistula. BAE was successfully performed in both cases, with no recurrent hemorrhage. Therapeutic interventions in bronchial artery racemose hemangiomas include lobectomy or segmentectomy, bronchial arterial ligation, and BAE. BAE should be considered as first-line therapy for bleeding racemose hemangiomas of the bronchial artery because of its low risk of adverse effects on respiratory status, minimal invasiveness, and faster patient recovery.

Hyperfibrinolysis and fibrinolysis shutdown in patients with traumatic brain injury.

Traumatic brain injury (TBI) is associated with coagulation/fibrinolysis disorders. We retrospectively evaluated 61 TBI cases transported to hospital within 1 h post-injury. Levels of thrombin-antithrombin III complex (TAT), D-dimer, and plasminogen activator inhibitor-1 (PAI-1) were measured on arrival and 3 h, 6 h, 12 h, 1 day, 3 days and 7 days after injury. Multivariate logistic regression analysis was performed to identify prognostic factors for coagulation and fibrinolysis. Plasma TAT levels peaked at admission and decreased until 1 day after injury. Plasma D-dimer levels increased, peaking up to 3 h after injury, and decreasing up to 3 days after injury. Plasma PAI-1 levels increased up to 3 h after injury, the upward trend continuing until 6 h after injury, followed by a decrease until 3 days after injury. TAT, D-dimer, and PAI-1 were elevated in the acute phase of TBI in cases with poor outcome. Multivariate logistic regression analysis showed that D-dimer elevation from admission to 3 h after injury and PAI-1 elevation from 6 h to 1 day after injury were significant negative prognostic indicators. Post-TBI hypercoagulation, fibrinolysis, and fibrinolysis shutdown were activated consecutively. Hyperfibrinolysis immediately after injury and subsequent fibrinolysis shutdown were associated with poor outcome.

Antithrombin activity levels for predicting long-term outcomes in the early phase of isolated traumatic brain injury.

Coagulopathy management is an important strategy for preventing secondary brain damage in patients with traumatic brain injury (TBI). Antithrombin (AT) is a natural anticoagulant that controls coagulation and inflammation pathways. However, the significance of AT activity levels for outcomes in patients with trauma remains unclear. This study aimed to investigate the relationship between AT activity levels and long-term outcomes in patients with TBI; this was a sub-analysis of a prior study that collected blood samples of trauma patients prospectively in a tertiary care center in Kawaguchi City, Japan. We included patients with isolated TBI (iTBI) aged ≥16 years admitted directly to our hospital within 1 h after injury between April 2018 and March 2021. General coagulofibrinolytic and specific molecular biomarkers, including AT, were measured at 1, 3, 6, 12, and 24 h after injury. We analyzed changes in the AT activity levels during the study period and the impact of the AT activity levels on long-term outcomes, the Glasgow Outcome Scale-Extended (GOSE), 6 months after injury. 49 patients were included in this study; 24 had good neurological outcomes (GOSE 6-8), and 25 had poor neurological outcomes (GOSE 1-5). Low AT activity levels were shown within 1 h after injury in patients in the poor GOSE group; this was associated with poor outcomes. Furthermore, AT activity levels 1 h after injury had a strong predictive value for long-term outcomes (area under the receiver operating characteristic curve of 0.871; 95% CI: 0.747-0.994). Multivariate logistic regression analysis with various biomarkers showed that AT was an independent factor of long-term outcome (adjusted odds ratio: 0.873; 95% CI: 0.765-0.996; p=0.043). Another multivariate analysis with severity scores showed that low AT activity levels were associated with poor outcomes (adjusted odds ratio: 0.909; 95% CI: 0.822-1.010; p=0.063). We demonstrated that the AT activity level soon after injury could be a predictor of long-term neurological prognosis in patients with iTBI.

Trends in the number of patients from traffic accidents and the state of emergency.

Aim: During the coronavirus disease 2019 pandemic, the number of traffic accidents and injured patients was reported to be lower than that before the pandemic. However, little is known regarding the relationship between periods of the state of emergency and the number of patients who met with traffic accidents. Methods: The numbers of trauma patients and deaths due to traffic accidents in Tokyo and Osaka were collected monthly from the statistics published by the police department. A state of emergency was declared four times in both cities. The number of trauma patients and deaths was compared between the emergency and other periods. Results: The number of monthly patients per 100,000 due to traffic accidents during the state of emergency was significantly lower than that during other periods in Tokyo (16.56 versus 18.20; P = 0.008) and Osaka (24.12 versus 28.79; P = 0.002). However, the monthly number of deaths during the state of emergency was not significantly different compared with those during the other periods in Tokyo (0.08 versus 0.08; P = 0.65) and Osaka (0.10 versus 0.14; P = 0.082). A decrease in the number of trauma patients was observed before the emergency period; however, the reduction rate dropped as the period passed. Conclusion: There were significantly fewer trauma patients due to traffic accidents during the state of emergency than during the other periods, with no significant difference in the number of deaths.

Neurointensive Care of Traumatic Brain Injury Patients Based on Coagulation and Fibrinolytic Parameter Monitoring.

Coagulopathy, a common complication of traumatic brain injury (TBI), is characterized by a hypercoagulable state developing immediately after injury, with hyperfibrinolysis and bleeding tendency peaking 3 h after injury, followed by fibrinolysis shutdown. Reflecting this timeframe, the coagulation factor fibrinogen is first consumed and then degraded after TBI, its concentration rapidly decreasing by 3 h post-TBI. The fibrinolytic marker D-dimer reaches its maximum concentration at the same time. Hyperfibrinolysis in the acute phase of TBI is associated with poor prognosis via hematoma expansion. In the acute phase, the coagulation and fibrinolysis parameters must be monitored to determine the treatment strategy. The combination of D-dimer plasma level at admission and the level of consciousness upon arrival at the hospital can be used to predict the patients who will "talk and deteriorate." Fibrinogen and D-dimer levels should determine case selection and the amount of fresh frozen plasma required for transfusion. Surgery around 3 h after injury, when fibrinolysis and bleeding diathesis peak, should be avoided if possible. In recent years, attempts have been made to estimate the time of injury from the time course of coagulation and fibrinolysis parameter levels, which has been particularly useful in some cases of pediatric abusive head trauma patients.

Coagulopathy and Traumatic Brain Injury: Overview of New Diagnostic and Therapeutic Strategies.

Coagulopathy is a common sequela of traumatic brain injury. Consumptive coagulopathy and secondary hyperfibrinolysis are associated with hypercoagulability. In addition, fibrinolytic pathways are hyperactivated as a result of vascular endothelial cell damage in the injured brain. Coagulation and fibrinolytic parameters change dynamically to reflect these pathologies. Fibrinogen is consumed and degraded after injury, with fibrinogen concentrations at their lowest 3-6 h after injury. Hypercoagulability causes increased fibrinolytic activity, and plasma levels of D-dimer increase immediately after traumatic brain injury, reaching a maximum at 3 h. Owing to disseminated intravascular coagulation in the presence of fibrinolysis, the bleeding tendency is highest within the first 3 h after injury, and often a condition called "talk and deteriorate" occurs. In neurointensive care, it is necessary to measure coagulation and fibrinolytic parameters such as fibrinogen and D-dimer routinely to predict and prevent the development of coagulopathy and its negative outcomes. Currently, the only evidence-based treatment for traumatic brain injury with coagulopathy is tranexamic acid in the subset of patients with mild-to-moderate traumatic brain injury. Coagulation and fibrinolytic parameters should be closely monitored, and treatment should be considered on a patient-by-patient basis.

Factors Influencing Long-Term Blood Flow in Extracranial-to-Intracranial Bypass for Symptomatic Internal Carotid Artery Occlusive Disease: A Quantitative Study.

BACKGROUND: Maintaining the patency of extracranial-to-intracranial (EC-IC) bypass is critical for long-term stroke prevention. However, reports on the factors influencing long-term bypass patency and quantitative assessments of bypass patency are limited. OBJECTIVE: To quantitatively evaluate blood flow in EC-IC bypass using four-dimensional (4D) flow magnetic resonance imaging (MRI) and investigate factors influencing the long-term patency of EC-IC bypass. METHODS: Thirty-six adult Japanese patients who underwent EC-IC bypass for symptomatic internal carotid or middle cerebral artery occlusive disease were included. We examined the relationships between decreased superficial temporal artery (STA) blood flow volume and perioperative complications, long-term ischemic complications, patient background, and postoperative antithrombotic medications in patients for whom STA flow could be quantitatively assessed for at least 5 months using 4D flow MRI. RESULTS: The mean follow-up time was 54.7 ± 6.1 months. One patient presented with a stroke during the acute postoperative period that affected postoperative outcomes. No recurrent strokes were recorded during long-term follow-up. Two patients died of malignant disease. Seven cases of reduced flow occurred in the STA, which were correlated with single bypass (P = .0294) and nonuse of cilostazol (P = .0294). STA occlusion was observed in 1 patient during the follow-up period. Hypertension, age, smoking, dyslipidemia, and diabetes mellitus were not correlated with reduced blood flow in the STA. CONCLUSION: Double anastomoses and cilostazol resulted in long-term STA blood flow preservation. No recurrence of cerebral infarction was noted in either STA hypoperfusion or occlusion cases.

Prevalence and Characteristics of Earthquake-Related Head Injuries: A Systematic Review.

OBJECTIVE: We conducted a systematic review to determine the prevalence and characteristics of earthquake-associated head injuries for better disaster preparedness and management. METHODS: We searched for all publications related to head injuries and earthquakes from 1985 to 2018 in MEDLINE and other major databases. A search was conducted using "earthquakes," "wounds and injuries," and "cranio-cerebral trauma" as a medical subject headings. RESULTS: Included in the analysis were 34 articles. With regard to the commonly occurring injuries, earthquake-related head injury ranks third among patients with earthquake-related injuries. The most common trauma is lower extremity (36.2%) followed by upper extremity (19.9%), head (16.6%), spine (13.1%), chest (11.3%), and abdomen (3.8%). The most common earthquake-related head injury was laceration or contusion (59.1%), while epidural hematoma was the most common among inpatients with intracranial hemorrhage (9.5%) followed by intracerebral hematoma (7.0%), and subdural hematoma (6.8%). Mortality rate was 5.6%. CONCLUSION: Head injuries were found to be a commonly occurring trauma along with extremity injuries. This knowledge is important for determining the demands for neurosurgery and for adequately managing patients, especially in resource-limited conditions.

Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.

The ring finger protein 213 (RNF213) susceptibility gene has been detected in more than 80% of Japanese and Korean patients with moyamoya disease (MMD), a bilateral internal carotid artery (ICA) occlusion. Furthermore, RNF213 has been detected in more than 20% of East Asians with atherosclerotic ICA stenosis. In this study, we evaluated the frequency of RNF213 mutations in congenital occlusive lesions of the ICA system. This case series was conducted jointly at four university hospitals. Patients with a family history of MMD, quasi-MMD, or related diseases were excluded. Ten patients were diagnosed with abnormal ICA or middle cerebral artery (MCA) angiogenesis. Patients with neurofibromatosis were excluded. Finally, nine patients with congenital vascular abnormalities were selected; of these, five had ICA deficiency and four had twig-like MCA. The RNF213 c.14576G > A mutation was absent in all patients. Therefore, the RNF213 c.14576G > A mutation may not be associated with ICA and MCA congenital dysplasia-rare vascular anomalies making it difficult to study a large number of cases. However, an accumulation of cases is required for accurate determination. The results of this study may help differentiate congenital vascular diseases from MMD.

Rapidly progressive brain atrophy in septic ICU patients: a retrospective descriptive study using semiautomatic CT volumetry.

BACKGROUND: Sepsis is often associated with multiple organ failure; however, changes in brain volume with sepsis are not well understood. We assessed brain atrophy in the acute phase of sepsis using brain computed tomography (CT) scans, and their findings' relationship to risk factors and outcomes. METHODS: Patients with sepsis admitted to an intensive care unit (ICU) and who underwent at least two head CT scans during hospitalization were included (n = 48). The first brain CT scan was routinely performed on admission, and the second and further brain CT scans were obtained whenever prolonged disturbance of consciousness or abnormal neurological findings were observed. Brain volume was estimated using an automatic segmentation method and any changes in brain volume between the two scans were recorded. Patients with a brain volume change < 0% from the first CT scan to the second CT scan were defined as the "brain atrophy group (n = 42)", and those with ≥ 0% were defined as the "no brain atrophy group (n = 6)." Use and duration of mechanical ventilation, length of ICU stay, length of hospital stay, and mortality were compared between the groups. RESULTS: Analysis of all 42 cases in the brain atrophy group showed a significant decrease in brain volume (first CT scan: 1.041 ± 0.123 L vs. second CT scan: 1.002 ± 0.121 L, t (41) = 9.436, p < 0.001). The mean percentage change in brain volume between CT scans in the brain atrophy group was -3.7% over a median of 31 days, which is equivalent to a brain volume of 38.5 cm3. The proportion of cases on mechanical ventilation (95.2% vs. 66.7%; p = 0.02) and median time on mechanical ventilation (28 [IQR 15-57] days vs. 15 [IQR 0-25] days, p = 0.04) were significantly higher in the brain atrophy group than in the no brain atrophy group. CONCLUSIONS: Many ICU patients with severe sepsis who developed prolonged mental status changes and neurological sequelae showed signs of brain atrophy. Patients with rapidly progressive brain atrophy were more likely to have required mechanical ventilation.

RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms.

A mutation in RNF213 (c.14576G>A), a gene associated with moyamoya disease (>80%), plays a role in terminal internal carotid artery (ICA) stenosis (>15%) (ICS). Studies on RNF213 and cerebral aneurysms (AN), which did not focus on the site of origin or morphology, could not elucidate the relationship between the two. However, a report suggested a relationship between RNF213 and AN in French-Canadians. Here, we investigated the relationship between ICA saccular aneurysm (ICA-AN) and RNF213. We analyzed RNF213 expression in subjects with ICA-AN and atherosclerotic ICS. Cases with a family history of moyamoya disease were excluded. AN smaller than 4 mm were confirmed as AN only by surgical or angiographic findings. RNF213 was detected in 12.2% of patients with ICA-AN and 13.6% of patients with ICS; patients with ICA-AN and ICS had a similar risk of RNF213 mutation expression (odds ratio, 0.884; 95% confidence interval, 0.199-3.91; p = 0.871). The relationship between ICA-AN and RNF213 (c.14576G>A) was not correlated with the location of the ICA and bifurcation, presence of rupture, or multiplicity. When the etiology and location of AN were more restricted, the incidence of RNF213 mutations in ICA-AN was higher than that reported in previous studies. Our results suggest that strict maternal vessel selection and pathological selection of AN morphology may reveal an association between genetic mutations and ICA-AN development. The results of this study may form a basis for further research on systemic vascular diseases, in which the RNF213 (c.14576G>A) mutation has been implicated.