Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease.

Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.

Spiral versus J-shaped coils for neurovascular embolisation-an in-vitro study.

Our purpose was to compare the characteristics of J-shaped detachable platinum coils with those of spiral coils in in-vitro vascular models. J-shaped coils consist of distal semicircular and proximal straight segments, the latter extending for most of the length of the coil. Spiral coils have a helical shape memory and are thus limited in expansion. In in-vitro silicone vascular models simulating intracranial aneurysms and dural arteriovenous fistulae, we compared J-shaped and spiral coils with regard to ease of delivery, anchoring and folding patterns, and stability in various types of vascular lumen. Delivery and retrieval were comparable. In large and irregular aneurysms and venous sinuses, J-shaped coils could form a more complex basket which conformed to the shape of the vascular cavity. The J-shaped coil was always in contact with the vessel wall. In wide-necked aneurysms, coil protrusion was more frequent with J-shaped coils, while spiral coils tended to stay compact and circular. Arteries were occluded in a shorter segment with spiral coils. J-shaped coils were safe and superior for large and irregular aneurysms or sinuses. Spiral coils were preferable for spherical aneurysms and segmental occlusion of arteries.

CT angiography, MR angiography and rotational digital subtraction angiography for volumetric assessment of intracranial aneurysms. An experimental study.

The purpose of our experimental study was to assess the accuracy and precision of CT angiography (CTA), MR angiography (MRA) and rotational digital subtraction angiography (DSA) for measuring the volume of an in vitro aneurysm model. A rigid model of the anterior cerebral circulation harbouring an anterior communicating aneurysm was connected to a pulsatile circuit. It was studied using unenhanced 3D time-of-flight MRA, contrast-enhanced CTA and rotational DSA angiography. The source images were then postprocessed on dedicated workstations to calculate the volume of the aneurysm. CTA was more accurate than MRA (P=0.0019). Rotational DSA was more accurate than CTA, although the difference did not reach statistical significance (P=0.1605), and significantly more accurate than MRA (P<0.00001). CTA was more precise than MRA (P=0.12), although this did not reach statistical significance. Rotational DSA can be part of the diagnosis, treatment planning and support endovascular treatment of intracranial aneurysms. The emerging endovascular treatment techniques which consist of using liquid polymers as implants to exclude aneurysms from arterial circulation would certainly benefit from this precise measurement of the volume of aneurysms.

Endovascular treatment of cerebral aneurysms: An in vitro study with detachable platinum coils and tricellulose acetate polymer.

OBJECTIVE: The purpose of our experimental study was to determine the effectiveness of filling the cavity of in vitro aneurysms with detachable platinum coils and the combination of detachable platinum coils and liquid embolic agent. MATERIALS AND METHODS: Silicone aneurysm models were connected to a circulatory system to simulate arterial flow. A microcatheter was used to introduce detachable coils into the aneurysm cavities. First, platinum coils were introduced until the point of minimal dense packing, indicated by aneurysmal circulatory exclusion. Packing was continued up to maximal dense packing, indicated by protrusion of the coil into the parent artery. Volumetric ratios (coil volume-aneurysm volume) were calculated for minimal and maximal dense packing. Then, after purposeful undercoiling of aneurysm models, a micropump system was used to fill the aneurysm by stepwise injection of tricellulose acetate polymer through the coil mesh until angiographic aneurysm exclusion was completed. The volumetric ratios of maximal packing with coils and tricellulose acetate polymer in relation to the aneurysm volume were calculated. RESULTS: Maximal dense packing ratios with coils (mean, 32.5%; standard deviation [SD], 3%) were slightly higher than those with the minimal dense packing (mean, 28. 2%; SD, 3%) but were always less than 37%. The ratios of packing with the combined use of coils and tricellulose acetate polymer were greater than 100% (mean, 124.4%; SD, 15%). CONCLUSION: Knowledge of the volumetric ratio of maximal dense packing was useful for effective filling with coils and tricellulose acetate polymer. The combined use of coils and liquid polymer appeared more effective than the use of coils alone for the complete occlusion of the aneurysm lumen.

Neurovascular embolization: in vitro evaluation of a mechanical detachable platinum coil system.

The authors evaluated a mechanically detachable platinum coil system intended for neurovascular use. The introduction characteristics, ease of delivery, ease of retrieval, and detachability were studied with fluoroscopic guidance with in vitro silicone models. All the coils passed easily through the microcatheter. The detachment maneuver occurred within 20 seconds with 20 or fewer rotations of the pusher wire. One of 229 coils detached prematurely but only after deliberate and extreme manipulation. The detachment system is safe, reliable, and consistent and will be useful for interventional neuroradiologists.

[A clinical study of posttraumatic hydrocephalus].

From 1989 to 1998, 721 patients with head injury were admitted to our department and 22 (3.1%) of them developed posttraumatic hydrocephalus. These patients included 16 males and 6 females, ranging in age from 17 to 86 years (mean age, 66 yrs) with peak incidence in the eighth decade. CT scan on admission immediately after head injury showed subarachnoid hemorrhage (SAH) in 18 cases. The other 4 cases without SAH had once suffered head injuries severe enough to give rise to consciousness disturbance. The typical clinical symptoms of hydrocephalus were observed in only 5 (23%) patients, and in the other 17 cases prolonged or deteriorated of consciousness disturbance were the main symptoms. Hydrocephalus was diagnosed between 1 and 3 months in 15 cases and in 7 cases after 4 months. Clinical improvement has been seen in 17 (77%) cases and marked recovery of consciousness was achieved in 12 cases after V-P shunt, but 5 cases with severe disturbance of consciousness revealed no improvement of clinical signs even after decrease of ventricular size. These results indicate that elderly patients with traumatic SAH should be followed up for at least 4 to 5 months, paying attention to development of hydrocephalus, and V-P shunt would be effective to improve consciousness disturbance in most of the cases.

Curative treatment of cerebral arteriovenous malformations by embolisation using cellulose acetate polymer followed by surgical resection.

AIM: To investigate the usefulness of embolising cerebral arteriovenous malformations (AVMs) with a cellulose acetate polymer solution before surgical resection. METHODS: The cases of 12 patients with AVMs treated by embolisation before surgical resection were renewed. Two types of cellulose acetate polymer solutions were used to occlude 40 feeding vessels. All patients underwent surgical resection 1-51 days after embolisation. RESULTS: Reduction of the nidus volume after embolisation ranged from 20% to nearly 100%. Transient neurological deficits occurred in three patients, persistent deficits occurred in one and there were no haemorrhagic complications. All but one arteriovenous malformation were completely resected. Embolisation helped to identify feeding vessels and ease dissection. Histopathological examination of resected specimens disclosed mild inflammatory reactions in the acute stage and no unfavourable granulomatous changes in the chronic stage. CONCLUSION: Embolisation with cellulose acetate polymer solutions followed by surgical resection is safe and efficacious for treating cerebral AVMs.

Middle meningeal artery embolization for refractory chronic subdural hematoma. Case report.

The authors present a case of refractory chronic subdural hematoma (CSH) in a 59-year-old man with coagulopathy due to liver cirrhosis. The patient was successfully treated by embolization of the middle meningeal artery after several drainage procedures. This new therapeutic approach to recurrent CSH is discussed.

Combined use of cellulose acetate polymer and retrievable platinum coils for the thrombosis of cervical carotid aneurysms.

Cellulose acetate polymer (CAP) solution is a new liquid embolic material, and it has been used clinically for the thrombosis of cerebral aneurysms. The purpose of the study was to test a method of aneurysm treatment. In an experimental model, retrievable interlocking detachable coils (IDCs) were used to create an intraaneurysmal frame or prop and then CAP was injected into 20 experimentally induced canine cervical aneurysms. Intraaneurysmal thrombosis was induced 1 week after aneurysm creation. Complete thrombosis was attempted in 12 aneurysms, and partial thrombosis was attempted in 4. Four other aneurysms served as controls. Follow-up angiography was performed for up to 8 weeks, and with the exception of 4 aneurysms, which were kept for a 2-year long-term follow-up study, the aneurysms were then harvested for histological examination. Thrombosis was successfully achieved in all cases except for 2 enlarged aneurysms that were initially partially thrombosed. No thromboembolism to distal vessels was observed. No compaction or shift of the CAP-IDC complex occurred even after 2 years. Histologically, CAP and IDCs conformed to the massive thrombotic complex without any fragmentation. By creating a frame or prop with retrievable microcoils, we were able to inject the CAP implies a comparison safely and precisely than has been previously reported. Our findings suggest that this method will be useful for the treatment of cerebral aneurysms.

Dense packing of cerebral aneurysms: an in vitro study with detachable platinum coils.

Aneurysm models were used to study the density of packing after coil embolization. Platinum coils were introduced until the point of minimally dense packing, indicated by aneurysmal circulatory exclusion. Packing was continued up to the point of maximal density, indicated by protrusion into the parent artery. Volumetric ratios (coil volume/aneurysmal volume) were calculated for minimally and maximally dense packing. Maximally dense packing ratios were a little higher than the minimally dense ratios, but less than 37%.

Embolization of cerebral arteriovenous malformations with cellulose acetate polymer: a clinical, radiological, and histological study.

OBJECTIVE: A cellulose acetate polymer (CAP) solution was hypothesized to be useful for the embolization of arteriovenous malformations (AVMs). To investigate this possibility, we analyzed the clinical, radiological, and histological results of patients with AVMs embolized by using a CAP solution. METHODS: We reviewed the cases of 11 patients with AVMs treated by embolization before surgical resection. We used two types of CAP solutions, CAP-M and CAP-L, which are mixtures of 250 mg of solid CAP and 1800 or 2250 mg of bismuth trioxide dissolved in 5.5 or 7.0 ml of dimethyl sulfoxide, respectively. After the embolization procedure, percent reduction of the nidus volume was measured, and thereafter, the clinical course and computed tomographic scans and/or magnetic resonance imaging scans were evaluated. All patients underwent surgical resection 1 to 51 days after embolization. Resected specimens were stained for light microscopic examination. RESULTS: Thirty-nine feeding vessels were embolized. The reduction rate of the nidus volume ranged from 20% to nearly 100%. Transient and persistent ischemic deficits occurred in three patients and one patient, respectively, and there were no hemorrhagic complications. All AVMs but one were completely resected by surgery. The embolized AVMs were soft enough to be easily cut and retracted. The histological examinations disclosed no or mild inflammatory reactions within 2 weeks after embolization. The internal elastic lamina was preserved in every case. Recanalization through the cast of the CAP mass was not observed until 51 days after embolization. CONCLUSION: CAP solution is a safe and useful embolic agent for AVMs.

Malignant nodular hidradenoma of nose.

Malignant tumours originating from the sweat glands are very rare. We report a case of a female with malignant nodular hidradenoma of the externa nasal pyramid. A brief review of literature including the histopathological aspects and management is presented herewith.

Partial thrombosis of canine carotid bifurcation aneurysms with cellulose acetate polymer.

OBJECTIVE: To investigate the usefulness of a cellulose acetate polymer (CAP) solution for partial thrombosis of aneurysms. METHODS: We created 14 canine cervical carotid bifurcation aneurysms, 11 of which were subsequently thrombosed partially with CAP solution. We then conducted angiographic and histological investigations. RESULTS: Nine aneurysms were thrombosed 50 to 70% by volume, although a significant crescent crevice between the aneurysmal sac and the CAP mass was left in four of the aneurysms. In the remaining two aneurysms in which a crescent crevice had been seen in the initial stage of CAP injection, 80% and more than 95% thrombosis were needed to occlude the crevice, respectively. Follow-up angiograms of the seven aneurysms with no crescent crevice revealed no shifts of position of the CAP mass toward the bottom of the aneurysm sac, but slight ballooning of the remnants was observed in two of them. The angiograms of the other four aneurysms with significant crescent crevices demonstrated rupture with a massive hematoma in one and shifts of the CAP mass with marked enlargement of remnants in three. Histologically, the seven aneurysms with no enlarged remnants had newly developed membranes consisting of endothelium, infiltrated spindle-shaped cells, collagen, and elastic fibers. In contrast, in the three markedly enlarged aneurysms, there were only recent clots between the CAP mass and the aneurysm lumen and no development of endothelium. CONCLUSION: Partial thrombosis with CAP solution is useful to keep aneurysms in a stable configuration, unless a crescent crevice has been left.

Percutaneous transluminal angioplasty for intracranial atherosclerotic stenosis.

SUMMARY: Eleven patients with symptomatic intracranial atherosclerotic stenotic lesions underwent percutaneous transluminal angioplasty (PTA). Seven patients had stenosis in M1 segment of the middle cerebral artery (MCA), two in the cavernous internal carotid artery, one in M2 segment of the MCA and one in the P2 segment of the posterior cerebral artery. Initial successful dilatation (less than 50% residual stenosis) was obtained in nine patients (81.8%). Permanent neurological deficit related to PTA was seen in one patient and transient symptoms were observed in two. Re-stenosis was revealed in two cases (18.2%) in the early followup period. All patients with successful dilatation and without re-stenosis never had TIA or stroke after PTA. Intracranial PTA is an effective procedure, but several problems remain to be solved.

Six cases of ruptured aneurysm, treated with cellulose acetate polymer.

SUMMARY: We review 6 cases of ruptured aneurysm which were elderly, poor-grade SAH or requiring high-risk surgery treated with Cellulose Acetate Polymer (CAP). A 76-year-old female with A-com aneurysm was comatose. Heart failure was her complication (case 1). An 81-year-old female with A-com aneurysm was semicomatose (case 2). An 89-year-old female with MCA aneurysm was semicomatose and had right hemiplegia (case 3). An 88-year-old female with MCA aneurysm was comatose (case 4). A 55-year-old male with IC-PC aneurysm had a small intracerebral hematoma and was semicomatose (case 5). A 52-year-old female with IC-Ach aneurysm was somnolent (case 6). All cases had no rebleeding after embolization. CAP embolization was complete in all cases but case 1. Case 4 died from primary brain damage on the day 7. Three cases stayed in a severely disabled state and died after 3 months (case 1), 2 months (case 2) and 4 months (case 3) from onset respectively. Case 5 remains in a moderately disabled state after 2 years. Case 6 had a anterior choroidal artery which was hard to spare on aneurysmal clipping. She is free from neurological deficits after CAP embolization. Angiography after 2 years demonstrated complete obstruction of the aneurysm. CAP is good for cases which are elderly, poorgrade SAH or difficult to treat with surgery. CAP embolization has some advantages over GDC coil obstruction for aneurysm treatment.

Embolization of cerebral arteriovenous malformations with cellulose acetate polymer. Histological study of the resected specimens.

SUMMARY: To test the usefulness of a cellulose acetate polymer(CAP) solution for brain arteriovenous malformations (AVMs), we analyzed the clinical and histological results of patients with AVMs embolized using CAP solution. We reviewed the cases of six patients with cerebral AVMs treated by embolization prior to surgical resection. We used two types of CAP solutions, CAP-M and CAP-L, which are mixtures of 250 mg of solid CAP and 1800 or 2250 mg of bismuth trioxide dissolved in 5.5 or 7.0 ml of dimethyl sulfoxide, respectively. All patients underwent surgical resection 1 to 37 days after the embolization procedure. Resected specimens were fixed in formalin and stained for light microscopic examination. Eighteen feeding vessels were embolized. The reduction rate of the nidus volume was between 20% and nearly 100%. Mild ischemic deficits occurred in one patients but there were no hemorrhagic complications related to the embolization procedures. All AVMs were completely resected by surgery. Direct inspection at surgery revealed that there was no apparent swelling or hematomas in the normal brain areas adjacent to the nidus, and the AVMs were soft enough to be easily retracted. The histological examinations disclosed no or mild inflammatory reactions within two weeks after embolization. The internal elastic lamina was preserved in every case. Recanalization of embolized vessels was not observed until 37 days after embolization. CAP solution is a safe and useful embolic agent for brain AVMs. Further study is needed to resolve the issue of recanalization.

An in vitro study to define the term "dense packing" of aneurysms with detachable coils, liquid embolic material and their combination.

SUMMARY: The purpose of this study was to define the terms minimal and maximal "dense packing" of a given cavity with platinum coils and liquid material (cellulose acetate polymer; CAP) using precise in vitro volumetric methods. Tests were performed using a simple in vitro aneurysm model, precisely measured in volume and thereafter filled with platinum coils and/or CAP. The volume of the aneurysmal cavity was measured with a very precise special micropump. The volume of each platinum coil (GDC) was also calculated. Minimal dense packing was defined as the point where there was angiographic evidence of complete filling of the cavity and exclusion from the parent lumen of the aneurysm. Maximal dense packing was defined as the point where introduction of additional coils resulted in their protrusion into the parent artery. At minimal dense packing the ratio of aneurysm volume to coil volume ranged from 25.97% to 32.50%. At maximal dense packing the ratio ranged from 29.55% to 36.16%. The volumetric ratio ofminimal and maximal dense packing obtained was lower than we had expected. The volumetric ratio with CAP was 106.08% and 126.08% and the ratio obtained by the combined use of coils and CAP ranged from 103.78% to 140.2%. When the volumetric ratio of the packing is much lower than the ratio of dense packing by rough estimate, we should expect coil compaction and careful follow-up should be done. Liquid material filled the lumen more densely and the additional use of liquid may be useful to prevent coil compaction.

Sinus pericranii associated with a cerebellar venous angioma--case report.

A 64-year-old male presented with sinus pericranii associated with a venous angioma draining through a large venous lake. Increased venous pressure and flow in the dural venous lake in contact with the venous sinus may have developed the sinus pericranii. Three-dimensional computed tomography was very useful in determining the site of the transcranial venous anastomotic channels, and magnetic resonance imaging was also very useful in detecting the intracranial vascular anomalies.