Tortuosity Research Articles

Abstract 10215: Investigating Aortic Geometric Changes After Endovascular and Open Surgery Repair of Descending Thoracic Aortic Aneurysms

Introduction: Repair of descending thoracic aortic aneurysms (DTAA) by endovascular (TEVAR) or open aortic replacement alters aortic anatomical and biomechanical characteristics, which may result in adverse cardiac remodeling. The interplay between all these factors remains mostly unknown. Hypothesis: A robust and objective quantification of 3D geometrical changes to the treated aorta will help investigate long-term cardiovascular consequences of DTAA repair. Methods: Pre- and post-operative 3D modeling from CT angiography was obtained for 6 patients undergoing OPEN (n=3) or TEVAR (n=3). An automated analysis was conducted to extract aorta centerlines, register pre/post geometries based on anatomical landmarks, calculate the following features: length ( L ), curvature ( C ), torsion ( T ), tortuosity ( TT ), cross sectional area ( A ), and volume ( V ). Pre/post repair geometric analysis was conducted on the ascending (AscAo) and descending (DesAo) aorta, and in consecutive segments based on C / T profiles; rotations between segments modeled as osculating planes were calculated; TEVAR vs OPEN differences were investigated. Results: The age of patients was 65±15 years and 4 were female. All centerline and geometric features were calculated from the models. Fig 1 shows one case with registered C profiles. Main results between pre/post were: increase in A AscAo (mean 43.4±20.5 mm 2 ) and V AscAo (mean 31.3±9 cm 3 ); increase in TT DesAo (0.6±0.4 vs 1.4±0.5, p=0.01); TEVAR cases showed DesAo elongation (mean 17.8±4 mm); trends for increasing C max (AscAo) and decreasing C max (DesAo); inter-segment rotations show notable pre/post variations (Fig 1b). Conclusions: Our preliminary analysis automatically quantified relevant changes in aortic anatomy pre/post repair of DTAA with either open or endovascular repair. Complemented with fluid dynamics and biomechanical studies these investigations could clarify mechanisms affecting long-term consequences of DTAA repair.

Geohydraulic Study of Aquifer characteristics in Parts of Enugu North Local Government Area of Enugu State using electrical resistivity soundings

Geophysical survey employing Vertical Electrical Sounding (VES) was achieved in Enugu State College of Education (Technical). Schlumberger electrode configuration was used in acquiring the data which was interpreted using the WinrResist software. Four to five geoelectric layers were delineated from the interpreted results. The hydraulic parameters (hydraulic conductivity, porosity, formation factor, tortuosity and transmissivity) were estimated from the values of resistivity and thickness which are primary geoelectric parameters. The result shows the hydraulic conductivity varying from 2.71 to 70.45m/day, transmissivity: 49.2288 to1127.944 , porosity: 33.71 to 49.44%, formation factor: 0.0014 to 0.0026 and tortuosity: 0.2667 to 0.2935. The zones with high and low values of these parameters were delineated. The potentiality of the aquifer units show moderate to high, a reflection of the heterogeneity of the subsurface which is affected by the composition and geometry of the formation. The result from this study provides some important conclusions for future groundwater exploration and management.

Effect of convection enhanced delivery on the microstructure of brain extracellular space in aged rats

To compare the changes of extracellular space (ECS) structure and local drug distribution in adult brain and aged brain at different drug delivery rates in minimally invasive treatment of encephalopathy by convection enhanced delivery (CED) via ECS pathway. Thirty-six SD male rats were divided into adult rats group (2-8 months, n=18) and aged rats group (18-24 months, n=18) according to the age of the month. According to the drug rates (0.1 μL/min, 0.2 μL/min, and 0.3 μL/min), they were randomly divided into 3 subgroups, 6 in each subgroup. Gadolinium-diethylene triamine pentaacetic acid (Gd-DTPA) with a concentration of 10 mmol/L were introduced into the caudate nucleus of each group of rats by stereotactic injection. Tracer-based magnetic resonance imaging (MRI) was used to dynamically monitor the diffusion and distribution images of the Gd-DTPA in the brain interstitial system (ISS). Using the self-developed MRI image measurement and analysis system software to process and analyze the obtained images, the diffusion coefficient, clearance rate, volume fraction, and half-life of each group of rats in the caudate nucleus ECS could be acquired. The effects and differences of drug clearance and ECS structural function in the brain of aged rats and adult rats were compared and analyzed at different drug delivery rates. Magnetic tracer DECS-mapping technique was used to observe the distribution and drainage of tracer in caudate nucleus. At the injection rate of 0.1 μL/min, the volume fraction in the aged rats was increased compared with that in the adult rats (18.20%±0.04% vs. 17.20%±0.03%, t=3.752, P=0.004), and the degree of tortuosity was decreased (1.63±0.04 vs. 1.78±0.09, t=-3.680, P=0.004), the drug clearance rate was decreased [(1.94±0.68) mm2/s vs. (3.25±0.43) mm2/s, t=-3.971, P=0.003], and the molecular diffusion in ECS was increased [(3.99±0.21)×10-4 mm2/s vs. (3.36±0.37)×10-4 mm2/s, t=3.663, P=0.004]. When the rate of injection increased to 0.2 μL/min, the drug clearance in ECS of the aged rats was slowed down [(2.53±0.45) mmol/L vs. (3.37±0.72) mmol/L, t=-1.828, P=0.021]. However, there were no significant differences in volume fraction, molecular diffusion in ECS and macroscopic drug metabolism parameters. When the rate of injection increased to 0.3 μL/min, the volume fraction in the aged rats was decreased (17.20%±0.03% vs. 18.20%±0.05%, t=-0.869, P=0.045), and the drug clearance rate in ECS was significantly accelerated [(4.04±0.76) mmol/L vs. (3.26±0.55) mmol/L, t=1.786, P=0.014], and there was no significant difference in tortuosity and the rate of molecular diffusion in the ECS. The drug clearance and ECS structural parameters of brain ECS in aged brain with CED administration were changed at different rates, and it has the least effect on ECS in the aged brain at the injection rate of 0.2 μL/min. For the application of CED for the treatment of encephalopathy, we should consider the influence of factors such as age and injection rate, and provide reference for the development of individualized clinical treatment plan for minimally invasive treatment of encephalopathy via ECS pathway.

Use of perfusional CBCT imaging for intraprocedural evaluation of endovascular treatment in patients with diabetic foot: a concept paper.

Diabetes mellitus (DM) is one of the most common metabolic diseases worldwide; its global burden has increased rapidly over the past decade, enough to be considered a public health emergency in many countries. Diabetic foot disease and, particularly diabetic foot ulceration, is the major complication of DM: through a skin damage of the foot, with a loss of epithelial tissue, it can deepen to muscles and bones and lead to the amputation of the lower limbs. Peripheral arterial disease (PAD) in patients with diabetes, manifests like a diffuse macroangiopathic multi-segmental involvement of the lower limb vessels, also connected to a damage of collateral circulation; it may also display characteristic microaneurysms and tortuosity in distal arteries. As validation method, Bold-MRI is used. The diabetic foot should be handled with a multidisciplinary team approach, as its management requires systemic and localized treatments, pain control, monitoring of cardiovascular risk factors and other comorbidities. CBCT is an emerging medical imaging technique with the original feature of divergent radiation, forming a cone, in contrast with the spiral slicing of conventional CT, and has become increasingly important in treatment planning and diagnosis: from small anatomical areas, such as implantology, to the world of interventional radiology, with a wide range of applications: as guidance for biopsies or ablation treatments. The aim of this project is to evaluate the usefulness of perfusion CBCT imaging, obtained during endovascular revascularization, for intraprocedural evaluation of endovascular treatment in patients with diabetic foot. (www.actabiomedica.it).

Automated assisted clinical diagnosis of retinopathy of prematurity based on deep learning

Objective To evaluate the application value of an intelligent fundus assisted diagnosis system for detecting retinopathy of prematurity (ROP) based on deep learning. Methods A total of 38 895 fundus images for premature infants screening were collected from Renmin Hospital of Wuhan University Eye Center and were labeled by 10 licensed ophthalmologists.A deep learning network model was established to acquire automatic classification of disease stages and plus disease.The accuracy, sensitivity and specificity of the algorithm were calculated to evaluate the performance of the artificial intelligence system for ROP automatic diagnosis.This study protocol was approved by Ethic Committee of Renmin Hospital of Wuhan University (No.WDRY2019-K032). Written informed consent was obtained from the guardians of the children before entering the study cohort. Results The intelligent system achieved an accuracy of 0.931.Specifically, the accuracies in detecting demarcation line (stage Ⅰ) was 0.876, ridge (stage Ⅱ) was 0.942, ridge with extra retinal fibrovascular (stage Ⅲ) was 0.968, subtotal retinal detachment (stage Ⅳ) was 0.998, total retinal detachment (stage Ⅴ) was 0.999, vascular tortuosity and dilatation (plus disease) was 0.896, optic disc was 0.954, macular was 0.781, and laser scars were 0.974, respectively. Conclusions Deep learning algorithm can detect the stages and plus disease of ROP with excellent accuracy, and it provides the feasibility of applying the algorithm for ROP automated screening in clinical. Key words: Artificial intelligence; Deep learning; Retinopathy of prematurity; Assisted diagnosis

Multimodal imaging characteristics of combined hamartoma of the retina and retinal pigment epithelium

Objective To observe the multimodal imaging characteristics of combined hamatoma of the retina and retinal pigment epithelium (CHRRPE). Methods A retrospective case study. From January 2013 to December 2017, 6 CHRRPE patients (6 eyes) diagnosed in Department of Ophthalmology, Sun Yat-sen Memorial Hospital were included in the study. There were 4 males and 2 females, with the mean age of 12.0±8.10 years. There were 5 eyes with BCVA ≤0.1, 1 eye with BCVA>1.0. Corneal fluoroscopy showed 1 eye with an external oblique 15°, and the remaining eye had no abnormalities in the anterior segment. All eyes underwent fundus color photography, FAF, FFA, ICGA, OCT and color Doppler flow imaging (CDFI). The multimodal imaging characteristics were observed. Results All the affected eyes CHRRPE were located in the posterior pole and showed mild elevation. Most of the retinal neuroepithelial layers had different degrees of hyperplasia, vascular tortuosity and retinal folds. Of the 6 eyes, 4 eyes (66.7%) involving the macula and optic disc, only 2 eyes (33.3%) involving the macula. OCT showed that the structure of the neuroepithelial layer was unclear and the signal intensity was uneven; it involved 2 eyes of the whole retina (33.3%) and only 4 eyes of the neuroepithelial layer (66.7%). FFA and ICGA showed that the choroidal background fluorescence of the early lesions was weakened, and the lesions showed slightly weak fluorescence; the late telangiectasia fluorescein was obviously leaked, and the lesions were stained with fluorescence. FAF mainly appears as weak autofluorescence with a small amount of strong autofluorescence. CDFI has no characteristic performance. Conclusions CHRRPE is mainly a membrane-like hyperplasia without angiogenesis, involving the retinal neuroepithelial layer, and may also involve the entire retina. OCT is dominated by strong reflection; AF, FFA and ICGA are mainly weak fluorescence. Key words: Retinal diseases; Hamartoma/diagnosis; Multimodal imaging characteristics

Flexible ureteroscopic holmium laser lithotripsy without preoperative stent treat ureteral stone in tortuous ureter

Objective To investigate the safety, efficacy and feasibility of flexible ureteroscopic holmium laser lithotripsy without preoperative stent treating ureteral stone in tortuous ureter. Methods 69 patients with ureteral stone in tortuous ureter retrospectively analyzed from March 2017 to December 2018 were enrolled and analyzed retrospectively. There were 30 males and 39 females, aged from 19 to 67 years old, with an average age of 45 years. The burden of ureteral stones was 0.6-3.0 cm, with an average of 1.1 cm. 24 patients with CT scan or intravenous urography showed tortuous ureter at the distal end of the ureteral calculi. The remaining 45 patients were found to have tortuous ureter during surgery. None of patients had preoperative ureteral stents. All preoperative urine cultures were negative. During the operation, the ureteral sheath was placed in the distal position of tortuous ureter, and the flexible ureteroscope was inserted into the ureter via sheath. Under continuous perfusion, the flexible ureteroscope was curved and pushed along the direction of the ureteral tortuosity. After through the tortuous position, the stone was pushed back to the kidney and crushed. For stones that could not be pushed, the stones were broken into pieces in the ureter and pushed back to the kidney for further pulverization. The ureteral stent was routinely placed at the end of surgery. Results Among a total of 69 patients, 64 patients were treated by flexible ureteroscopic holmium laser lithotripsy without preoperative stent, and the success rate was 92.8%. Among the 5 patients who failed the operation, 1 patient underwent ureterolithotomy because the tortuous ureteral wall was weak, resulting in ureteral perforation by flexible ureteroscope; in 1 case, after the flexible ureteroscope passed through the tortuosity, the calculi could not be pushed back to kidney and the in situ lithotripsy could not be performed because of the huge size of calculi(3.0 cm), so ureterolithotomy were performed; 1 patient underwent PCNL because flexible ureteroscope could not pass through the tortuosity; 1 patient failed to insert the ureteral sheath because of ureterostenosis and underwent flexible ureteroscopic lithotripsy after stent implantation; 1 patient underwent stent implantation because of infective urine. Among the 64 patients who had successful operations, the stone clearance rate at the first month and the third month after surgery were 90.6% (58/64) and 95.3% (61/64). 4 patients had fever after the surgery, and 1 patient had renal area pain. Clavien classification gradeⅠ-Ⅱ.The complication rate was 7.8%. Conclusions Flexible ureteroscopic holmium laser lithotripsy without preoperative stent was a safe, effective and feasible treatment for patients with ureteral stone in tortuous ureter. Key words: Ureteral stone; Tortuous ureter; Flexible ureteroscope; Holmium laser

Diagnostic imaging features of Menkes disease

Objective To analyze the imaging features of Menkes disease in children, and in order to identify the diagnostic value and improve the knowledge of it. Methods The imaging findings of 9 Menkes disease patients confirmed by the clinical and laboratory examinations were retrospectively analyzed. All the patients were male aged from 2.0 to 7.0 months with a median age of 3.0 months. The clinical manifestations including seizures, psychomotor retardation, dystonia accompanied with light complexion and curly hair. The laboratory examinations showed low serum copper and ceruloplasmin levels. All the patients were performed with plain MR scan and MR angiography, 7 cases were performed with chest X-ray examinations and 4 cases were performed with bone X-ray examinations and 1 were performed with hand X-ray examinations. Results The plain MR scan showed white matter lesions in 8 cases, abnormality signal intensity of basal ganglia in 4 cases, subdural effusion in 2 cases. 8 cases had cerebral and cerebellar atrophy at different degrees. The MR angiography showed abnormal tortuosity of the main intracranial arteries. The chest X-ray of 5 in 7 cases showed that the front end of bilateral ribs were spherical and enlarged. 4 cases were performed with bone X-ray presenting, 3 out of 4 cases showed the widened metaphysis of tibia, fibula, femoral, humerus ulna and radius with the shape like cup-mouth and the formation of bony spur locally. The X ray examination of 1 case with connecting palm showed symphysodactylia. Conclusion Brain MR, X-ray of chest and bone showed imaging features of Menkes disease. MR angiography finding was the most distinctive feature, which has important value in the diagnosis of Menkes disease. Key words: Menkes disease; Magnetic resonance imaging; Copper

Diffusion kurtosis imaging in diffuse axonal injury

To evaluate novel neuroimaging biomarkers for monitoring brain injury using diffusion kurtosis imaging (DKI) in patients with severe diffuse axonal injury. DKI data of 12 patients with severe DAI (11 patients with a Glasgow Coma Scale (GCS) score of ≤ 8 and 1 patient with a GCS score of 9) and 8 healthy volunteers (control group) were compared. MRI examination was performed 5 to 19 days after injury; 7 of the 12 patients underwent repeated MRI examinations. We assessed the following parameters: mean, axial, and radial kurtosis (MK, AK, RK, respectively) and kurtosis anisotropy (KA) of the white and gray matter; fractional anisotropy (FA), axonal water fraction (AWF), axial and radial extra-axonal diffusion (AxEAD and RadEAD, respectively), and tortuosity (TORT) of the extra-axonal space) of the white matter. Regions of interest (ROIs) were set bilaterally in the centrum semiovale, genu and splenium of the corpus callosum, anterior and posterior limbs of the internal capsule, putamen, thalamus, midbrain, and pons. A significant reduction in KA (p<0.05) in most of ROIs set on the white matter was revealed. AK was increased (p<0.05) not only in the white matter but also in the putamen and thalamus. A significant reduction in MK with time was observed when the first and second DKI data were compared. AWF was reduced in the centrum semiovale and peduncles. The TORT parameter was decreased (p<0.05) in the majority of ROIs in the white matter, with the most pronounced changes occurring in the genu and splenium of the corpus callosum. DKI provides novel data about microstructural injury in DAI and improves our knowledge of brain trauma pathophysiology. DKI parameters should be considered as potential biomarkers of brain injury and potential predictors of the outcome.

Clinical features and identification of gene mutation in families with familial exudative vitreoretinopathy

Objective To identify mutations in NDP, FZD4, LRP5, TSPAN12 in Chinese families with familial exudative vitreoretinopathy (FEVR) and observe the clinical features. Methods Retrospective case series study. The 9 patients (18 eyes) and 5 normal members from 4 unrelated families were included in the study. The patients medical history and family history were collected in detail. All patients underwent best corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus colorized photography, fundus fluorescein angiography (FFA). Genomic DNA were collected from all the patients. Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries of NDP, FZD4, LRP5 and TSPAN12 gene. Polyphen and SIFT programs were used to predict the effects on the structure and functional properties of mutant protein. Results There were two affected individuals in the family 2 carried LRP5 gene mutation [c.1330C> T(p.R444C )] in exon 6 by sequence analysis. A score of 0.882 was acquired by Polyphen program analysis. And the missense change was predicted to be pathogenic by SIFT. Fundus changes of the proband showed angioplasia, tortuosity of peripheral vessels. And temporal dragging of the optic disc, peripheral avascular zone, neovascularization were found in FFA. Brush-like and straight of peripheral vessels were found in Ⅰ1. No variant was found in NDP, FZD4 and TSPAN12 gene. Conclusion Our study supports the gene mutation c.1330C> T (p.R444C) of LRP5 is pathogenesis of FEVR. Patients with the same mutation could have variable phenotypic characteristics. Key words: Retinal diseases/genetics; Retinal diseases/etiology; Genes; Mutation; Sequence analysis

DIFFUSION-KURTOSIS IMAGING IN ASSESMENT OF BRAIN MICROSTRUCTURE. HEALTHY VOLUNTEERS MEASURMENTS

Aim:discover quantitative and qualitative variance of diffusion parameters in white and gray matter of healthyvolunteers brain. Discover correlation between diffusion and kurtosis parameters, find out if there is correlation between the parameters and aging microstructural changes.Materials and methods.14 healthy volunteers were investigated (9 men, 5 women; age from 21 to 55 years, mean 34). The volunteers were classified into two groups by age: 7 subjects who younger 35 (6 men and 1 woman, mean age 25) and 7 subjects who older 35 years (3 men and 4 women, mean age 44). We used 3.0 Tesla MRI (3.0T SignaHDxt, General Electric, USA) with 8 channel head coil, gradient strength 50 mT/m, slew rate 150 T/m/s. Diffusion imaging was based on echo planar “spin echo” sequence (SE EPI), TR = 10000 ms, TEmin = 102 ms, FOV = 240 mm, voxel size 3 × 3 × 3 mm3, 60 non-coplanar diffusion directions and three b-values: 0, 1000, 2500 s/mm2. Acquisition time of diffusion kurtosis imaging was 22 minutes. We excluded extracerebral areas on diffusion and kurtosis parametric maps using semi-automatic approach. After that, brain images were transformed to MNI152 space using affine method. Masks of 9 anatomical structures were applied to the transformed images. Diffusion and kurtosis values were measured in these structures.Results.Fractional anisotropy (FA) changed from 0.06 in lateral occipital cortex to 0.25 in cerebral white matter, kurtosis anisotropy (KA) changed from 0.03 to 0.14 in the same cerebral structures. Axial (AK), radial (RK) and mean kurtosis (MK) were minimal in superior frontal gyrus and maximal in cerebral white matter. AK changed from 0.55 to 0.72, RK changed from 0.62 to 1.05, MK from 0.59 to 0.88. Axial(AxEAD) and radial extra axonal water diffusion (RadEAD) were minimal in putamen and maximal in superior frontal gyrus. AxEAD was changing from 1.38 • 10–3 to 2.57 • 10–3, RadEAD from 1.03 • 10–3 to 2.34 • 10–3. Axonal water fraction (AWF) had minimal value 0,18 in superior frontal gyrus and maximal value 0.29 in cerebral white matter. Tortuosity (TORT) changed from 1.06 in lateral occipital cortex to 1.43 in cerebral white matter. There was significant difference between age groups in AWF, RK, RadEAD in putamen and in KA in superior temporal gyrus. Maximal correlation with age was in MK in superior temporal gyrus, anterior division. It was equal to 0.562.Conclusions:Diffusion kurtosis imaging is highly sensitive method of brain tissue microstructure assessment, which detects age-related changes.

The macular capillary morphology in diabetic patients by optical coherence tomography angiography

Objective To observe the macular capillary morphology in diabetic patients. Methods A total of 61 patients (104 eyes) with diabetes mellitus (DM group) and 31 healthy controls (41 eyes) were enrolled in the study. According to the degree of diabetic retinopathy (DR), the DM group was divided into non-DR (NDR) group, non-proliferative DR (NPDR) group, and proliferative DR (PDR) group. There were 13 patients (23 eyes), 21 patients (34 eyes) and 27 patients (47 eyes) in each group, respectively. According to whether there was diabetic macular edema (DME), the DM patients were divided into DME group and non-DME group, each had 20 patients (28 eyes) and 41 patients (76 eyes), respectively. The age (F=2.045) and sex (χ2=2.589) between the control group, the NDR group, the NPDR group and PDR group were not statistically significant (P=0.908, 0.374). The 3 mm × 3 mm region in macula was scanned by optical coherence tomography angiography (OCTA), and the retinal capillary morphological changes of superficial capillary layer (SCL) and deep capillary layer (DCL) were observed. Chi-square test and t test were used to compare data among different groups. Results There was no abnormal change of retinal capillary morphology in control group. Microaneurysms and foveal avascular zone (FAZ) integrity erosion can be found in NDR group. There were microaneurysms, FAZ integrity erosion, vascular tortuosity bending, capillary non-perfusion and venous beading in NPDR and PDR groups. The microaneurysms of DCL were significantly more than that of the SCL (t=4.759, P<0.001). The eyes with microaneurysms in NDR group, NPDR group, and PDR group showed significant differences (χ2=44.071, P<0.001), and the eyes with FAZ integrity erosion among these three groups also showed significant differences (χ2=30.759, P<0.001). Compared with NPDR group and PDR group, there were significant differences in vascular tortuosity bending and capillary non-perfusion (vascular tortuosity bending: OR=0.213, 95%CI 0.070−0.648, P=0.004; capillary non-perfusion: OR=0.073, 95%CI 0.022−0.251, P<0.001), and there was no significant difference in venous beading (OR=0.415, 95%CI 0.143−1.208, P=0.102). SCL blood flow density in the 4 groups (control, NDR, NPDR and PDR group) was 49.233±1.694, 48.453±2.581, 45.020±4.685 and 40.667±4.516, respectively. While the difference between the control and NDR group was not significant, the differences between other pairs (control vs NPDR/PDR, NDR vs NPDR/PDR, NPDR vs PDR) were significant. The ratio of FAZ integrity erosion and non-perfusion of DME group was significantly higher than those of non-DME group (vascular tortuosity bending: OR=7.719, 95%CI 1.645−36.228, P=0.004; capillary non-perfusion: OR=14.560, 95%CI 3.134−67.646, P<0.001). Conclusions OCTA can distinctively detect the abnormal retinal capillary changes of SCL and DCL in diabetic patients. Even in DM patients without diabetic retinopathy, OCTA can detect abnormal blood vessels. Key words: Diabetic retinopathy; Regional blood flow; Tomography, optical coherence; Foveal avascular zone

Occipital Horn Syndrome Case Report: Multidisciplinary Approach of a Rare Entity

We report the case of an 8-year-old boy with delayed psychomotor development, dysarthria, choreoathetosis, joint mild hyperlaxity, coarse hair, dry lax skin and facial dimorphisms. Cerebral magnetic resonance revealed diffuse vascular tortuosity, with multiple loops in some arteries of Willis ’ circle. Clinical presentation, corroborated by the imagiological findings, raised the suspicion of a disorder of copper metabolism. Serum copper and ceruloplasmin were decreased and lateral skull X-rays demonstrated bilateral occipital exostoses. ATP7A gene sequencing identified a hemizygous variant c.375delA (p.Ala126Glnfs*2), confirming the diagnosis of occipital horn syndrome. Occipital horn syndrome (also called X-linked cutis laxa) is a milder form of Menkes disease. This rare disorder of copper metabolism results from mutations in ATP7A gene encoding a transmembrane copper-transporting enzyme. The broad spectrum of clinical presentation makes the diagnosis challenging. This case illustrates the importance of a multidisciplinary approach, highlighting the role of neuroimaging. J Med Cases. 2018;9(7):207-210 doi: https://doi.org/10.14740/jmc3078w

Role of ultrasonography in diagnosis of vertebral artery stenosis

Objective To discuss the function and advantages of ultrasound technology in various factors in the diagnosis of vertebral artery stenosis lesions. Methods The objective data of ultrasonography were selected in 60 patients(120 vertebral arteries) with paroxysmal, reversible vertigo and headache as the chief complaint, the internal relations were summarized and analyzed. Results In the subjects of study, the vertebral artery stenosis for 38.2%, vertebral artery course tortuosity changer accounted for 33.3%, congenital abnormal development accounted for 9.8%, mixed cause 18.6%, dominant etiology was vertebral artery sclerosis and vertebral artery tortuosity change. Conclusion Ultrasound technology has important value of clinical application in the reasons diagnosis of vertebral artery stenosis disease, it can help extend clinical diagnosis. Key words: Vertebral artery stenosis; Ultrasonic examination; Vertebral artery curvature change; Pulse wave doppler; Color doppler flow imaging

Value of balloon closure combined with endoscopic therapy for gastric varices with portasystemic shunt

Objective To evaluate the clinical effect of balloon closure combined with endoscopic therapy on spontaneous gastrorenal shunt(SGRS) and spontaneous splenorenal shunt(SSRS). Methods The data of 33 patients of gastric varices with SGRS or SSRS diagnosed in the Chinese PLA General Hospital between January 2009 and February 2016 were collected. All patients were treated with the balloon retrograde distributary channel blocking technique and endoscopic histoacryl injection. Patients′ clinical data, complications and effect of endoscopic therapy were retrospectively analyzed. Results In the 33 patients of gastric varices, gastrorenal shunt was found in 28(84.8%) cases and splenorenal shunt was found in 5(15.2%) cases. After the balloon blocking technique, 24 cases (72.7%) were occluded successfully. Four cases failed in occlusion of SSRS due to tortuosity. There were no postoperative ectopic embolism, infection, hepatic encephalopathy, liver function deterioration, and other complication. Early latex varices were found in 21 cases after three months follow-up. Conclusion The balloon blocking technique combined with tissue adhesive injection could safely and effectively avoid the risk of ectopic embolism and plays an important role in the treatment of gastric varices in merger portasystemic shunt. Key words: Endoscopes; Esophageal and gastric varices; Balloon embolization; Portasystemic shunt

Association of age, gender and carotid artery atherosclerosis with carotid artery tortuosity

Objective To investigate the relationship of age, gender, carotid artery atherosclerosis with carotid artery tortuosity. Methods The data of patients with carotid computed tomography angiography(CTA)at Beijing Hospital from January 2014 to June 2016 were retrospectively reviewed.A total of 100 patients aged ≥50 years with normal carotid arteries and 100 patients with atherosclerotic carotid artery diseases were selected with age-and gender-stratified and random sampling method.Three-dimensional images of bilateral carotid arteries were reconstructed by using Mimics software.The common carotid artery(CCA)tortuosity index, extracranial internal carotid artery(EICA)tortuosity index, and the CCA-ICA bifurcation angle were measured.Association of laterality, age and gender with carotid artery tortuosity was analyzed and the differences in parameter values of carotid artery tortuosity were compared between normal carotid artery subjects and patients with atherosclerotic carotid artery. Results In normal carotid artery group, the EICA tortuosity index and ICA angle were larger in left-side than in right side(P 0.05). Manne-Whitney tests showed no statistically significant differences in EICA tortuosity, ICA angle or CCA tortuosity between patients with versus without atherosclerotic carotid artery stenosis(P>0.05). Conclusions The tortuosity in both EICA and CCA increases with age, and the EICA and CCA are more tortuous in female.There is no significant correlation between carotid artery tortuosity and atherosclerotic carotid artery disease. Key words: Carotid artery diseases; Age factors; Sex factors; Atherosclerosis

Correlation analysis between tortuosity of extracranial internal carotid artery and extracranial vertebral artery and acute ischemic stroke

Objective To analyze the correlation between tortuosity of extracranial internal carotid artery (EICA) and extracranial vertebral artery (EVA) and acute ischemic stroke, so as to discuss the causes of vascular tortuosity and the mechanism on inducing stroke. Methods This study included 103 patients with acute ischemic stroke and 103 patients without acute ischemic stroke whose manifestations were headache and dizziness. CTA was used to measure the tortuosity index (TI), deviation degree (DD), tortuosity degree (TD) and angular number (AN) of EICA and EVA. Pearson correlation analysis and Spearman rank correlation analysis were used to analyze the correlations of arterial tortuosity with risk factors for ischemic stroke and vascular morphology. Univariate and stepwise multivariate Logistic regression analysis were used to screen related risk factors for tortuosity of EICA and EVA. Results The stroke group had higher TI ( P = 0.000, 0.000), DD ( P = 0.000, 0.000), TD ( P = 0.002, 0.000) and AN ( P =0.019, 0.000) of EICA and EVA than those in control group. According to the site of infarction, the stroke group was divided into anterior circulation infarction (ACI) subgroup (N = 73) and posterior circulation infarction (PCI) subgroup (N = 30), and there was no significant difference in above-mentioned vascular morphological indexes between 2 subgroups ( P > 0.05, for all); in each subgroup, there was no significant difference between infarct side and non-infarct side of EICA, and between left and right EVA ( P > 0.05, for all). Nevertheless, the TI ( P = 0.000), DD ( P = 0.000) and TD ( P = 0.045) of EICA in ACI subgroup were higher than those in control group; TI ( P = 0.000), DD ( P = 0.000), TD ( P = 0.000) and AN ( P = 0.046) of EVA in PCI subgroup were higher than those in control group. In stroke group, correlation analysis revealed that TI of EICA was positively correlated with age, cervical artery atherosclerosis (CAS), EICA and EVA morphological indexes (except DD of EVA; P < 0.05, for all), but was negatively correlated with male ( r s = -0.253, P = 0.010); TI of EVA was positively correlated with age, hypertension, morphological indexes of EICA and EVA ( P < 0.05, for all), but negatively correlated with male ( r s =-0.276, P = 0.005). Univariate and stepwise multivariate Logistic regression analysis showed that female (EICA: OR = 1.458, 95% CI: 1.111-5.166, P = 0.016; EVA: OR = 9.092，95%CI: 1.294-63.872, P = 0.026) and age (EICA: O R = 1.050, 95%CI: 1.013-1.088， P = 0.007; EVA: OR = 1.084, 95%CI: 1.003-1.138, P = 0.001) were independent risk factors for tortuosity of EICA and EVA. Conclusions There are no significant differences between left and right side, anterior and posterior circulation on tortuosity distribution of patients with ischemic stroke. The EICA and EVA morphological indexes of stroke patients was significantly higher than that of non-stroke patients. Female and age are independent risk factors for tortuosity of EICA and EVA. DOI: 10.3969/j.issn.1672-6731.2017.04.010

Tortuous forearm arteries and its clinical implications: A Case Report

The arteries of upper limb were studied in 10 cadavers who were dissected in Department of Anatomy, Integral Institute of Medical Sciences and Research, Lucknow of 1 year 2015-2016. The arteries in 9 cadaveric specimens showed the normal arterial configuration. In one cadaver the course of the artery was anomalous. It showed an unusual course with loops and bends. The tortuosity of peripheral arteries is usually asymptomatic. Tortuous or twisted arteries and veins are commonly seen in humans and animals. While mild tortuosity is a common anomaly without clinical symptoms, severe tortuosity can lead to various serious symptoms. Clinical observations have linked tortuous arteries and veins to aging, atherosclerosis, hypertension, genetic defects and diabetes mellitus.

Dynamic observation of corneal reinnervation after small incision lenticule extraction at cap by confocal microscope

Background Corneal reinnervation of subbasal nerve plexus have been found after small incision lenticule extraction(SMILE). However, there were few reports about corneal reinnervation mode and dynamic changes at the corneal cap in different time points postoperation. Objective The aim of this study was to evaluate the corneal reinnervation at the cap margin after SMILE. Methods The clinical data of 32 myopic eyes of 16 patients who received SMILE incision lenticule extraction surgerv in Affiliated Eye Hospital of Shandong Medical College from April 2014 to April 2015 were retrospectively analyzed.The following-up was carried in 1 week, 1 month, 3 months and 6 months after surgery, and in-vivo confocal microscopy was used to acquire images of the central corneal subbasal nerve plexus before and after surgery, with the scan range of 0.4 mm×0.4 mm, from which nerve density and nerve tortuosity were evaluated using Image-Pro Plus imaging analysis software.The overall length of nerve fibers at the central cornea was measured to assess the subbasal nerve density, and the repair of nerve fibers at cap was observed. Results The corneal subbasal nerve density was (19 687.45±1 147.59), (10 500.46±1 056.22), (12 833.40±1 047.98), (13 564.04±1 173.01) and (14 661.35±941.92)μm/mm2 in preoperation and postoperative 1 week, 1 month, 3 months, 6 months, respectively, with a significant difference among different time points (F=319.44, P=0.000), and the corneal subbasal nerve densitis in postoperative time points were significantly reduced in comparison with the preoperation, and corneal subbasal nerve densities were gradually increased after surgery as the extending of time, showing significant differences between different time points (all at P<0.01). Abundant corneal subbasal nerve fibers were seen with the near normal morphology after surgery.However, the fragments and disaggregation of nerve fibers were found at the incision of cap margins, and some nerve fibers extended toward the inner cap at the non-incision of cap margins 1 week after surgery.In 3-6 months after SMILE, the continuous extension of nerve fibers was exhibited under the confocal microscope. Conclusions Six months after surgery, less invasive SMILE technique can remain the superficial corneal nerve fibers.Corneal innervation shows a radiate mode from peripheral cornea outside toward inside of the cap.The subbasal never fiber density is gradually increased with the extending of time after SMILE. Key words: Corneal reinnervation; Cornea surgery, laser; Lasers, excimer/therapeutic use; Microscopy, confocal; Nerve regeneration/physiology; Ophthalmic nerve/physiology; Surgical flaps; Small incision lenticule extraction

Optical coherence tomography angiography in retinal vein occlusion

Objective To observe the characteristics of optical coherence tomography (OCT) angiography (OCTA) in retinal vein occlusion (RVO). Methods Prospective and observational study. Clinical examination of 81 consecutive patients (86 eyes) diagnosed with RVO were included in the study, in which the branch retinal vein occlusion in 47 eyes, central retinal vein occlusion in 39 eyes. Forty-five patients were male and 36 patients were female. Aged from 28 to 76 years old, the mean age was (55.36±10.01) years old. Comprehensive optical and imaging examination were performed, including fundus photography, fundus fluorescein angiography (FFA), spectral domain OCT, en face OCT and OCTA. The retinal blood flow imaging scan mode and the optic disc blood flow imaging scan mode were performed, the scanning region in the macular area were 3 mm × 3 mm, 6 mm × 6 mm, 8 mm × 8 mm respectively, around the optic disc were 3 mm × 3 mm and 4.5 mm × 4.5 mm. Each region scans 2 times. The characteristics of foveal avascular zone change, macular edema, non-perfusion and optical disc edema in OCTA and their corresponding FFA and en face OCT were observed. Results By OCTA, 67 eyes (77.9%) for foveal avascular zone change, 23 eyes (26.7%) for macular edema, 40 eyes (46.5%) for non-perfusion, and 33 eyes (38.4%) for optical disc edema can be detected. The foveal avascular zone change can be indentified as the tranformation, destruction and even vanish of the arch in superfacial layer of retinal macular area, acompanied with the dilatation and thickening of capillary vessels, the occlusion and expanding of capillary vessels arounded the foveal avascular zone in the deep layer of macular area. Those performances were more clear than FFA. The main expression of macular edema was low signal and was not as clear as en face OCT. The tortuosity and expansion of retinal vessels, density decreasing and even occlusion or abnormal traffic branch of capillary vessels can be observed in non-perfusion. These observations were similar to FFA. However, pieces of highly signal identical with non-perfusion area can be detected in chroid capillary. The representation of optical disc edema was the brush-like expanding of capillary vessels aroud optical disc. Conclusions OCTA can help for observing the abnormal changing of capillary vessels in foveal avascular zone and macular edema, non-perfusion and optical disc edema. Foveal avascular zone change showed occlusion and expanding of capillary vessels around the foveal avascular zone in the deep layer of macular area. Macular edema showed the weak signal. Non-perfusion showed tortuosity and expansion of retinal vessels, density decreasing and even occlusion or abnormal traffic branch of capillary vessels. Optical disc edema showed brush-like expanding of capillary vessels around optical disc. Key words: Retinal vein occlusion/diagnosis; Tomography, optical coherence