Mild Tortuosity Research Articles

Occult retinal neovascularization following intravitreal bevacizumab and laser treatment for retinopathy of prematurity

BackgroundWe present a patient with retinopathy of prematurity (ROP) who developed worsening plus disease after complete regression of stage 3 ROP. The use of fundus fluorescein angiography (FFA) aided the visualization of occult neovascularization that caused the disease progression.Case presentationThe patient was at high risk for ROP due to low birth weight of 690 g and gestational age of 25 weeks. After the diagnosis of stage 3 ROP in zone I without plus disease, she was treated initially with bilateral intravitreal bevacizumab (IVB) and followed by laser photocoagulation 5 weeks later. Despite the resolution of ROP stage, the plus disease worsened. Neither systemic risk factors nor skip laser areas were observed. Hence, FFA was performed and subsequently identified occult neovascularization with active leakage. Additional IVB and laser treatment in the capillary dropout area inside vascularized retina were added. The plus disease improved but mild arteriolar tortuosity persisted.ConclusionsWorsening of plus disease after completion of laser ablation and IVB with complete regression of stage 3 ROP is rare. Systemic risk factors such as continuous oxygen therapy and cardiovascular disease should be ruled out. FFA aided in identifying occult neovascularization and prompted further treatment.

Combined central retinal vein occlusion and cilioretinal artery occlusion in an MTHFR C677T homozygous 26-year-old patient with hyperhomocysteinemia: Case report

A 26-year-old female patient presented with sudden, painless visual disturbances in her right eye (RE). Fundus examination revealed signs of a central retinal vein occlusion (CRVO) (hemorrhages, mild venous tortuosity, mild disc swelling, and blurred disc margins), as well as a white ischemic area nasal to the optic nerve, suggesting a possible cilioretinal artery occlusion (CLRAO). A diagnosis of combined CRVO and nasal CLRAO with homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and elevated levels of serum homocysteine was made. The patient was prescribed folic and acetylsalicylic acid and subsequent follow-up demonstrated gradual improvement.

Early MR brain findings in a neonate with molybdenum cofactor deficiency

Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism which presents with neonatal encephalopathy, seizures, and a turbulent postnatal course. It is an under-recognized cause of neonatal encephalopathy as it mimics hypoxic ischemic encephalopathy (HIE) on imaging. We present the case of an affected male neonate of a twin pregnancy whose magnetic resonance imaging in the early neonatal period showed restricted diffusion in lobar distribution with areas of cystic gliosis and mild tortuosity of the intracranial vessels. There are only a few case reports to the best of our knowledge which describe magnetic resonance (MR) findings of MoCD on diffusion-weighted images, none of which mentions unilateral changes or vessel tortuosity. MoCD should be considered in children with MR findings mimicking HIE in the absence of a history of perinatal hypoxia. This is important as the disorder has a poorer prognosis and the parents need appropriate prenatal counseling.

Severe Tortuosity of the Distal Descending Thoracic Aorta Affects the Accuracy of Distal Deployment During a Thoracic Endovascular Aortic Repair

Purpose: An accurate distal deployment is essential for successful thoracic endovascular aortic repair (TEVAR) of a paradiaphragmatic aortic aneurysm. This study aimed to investigate the anatomical and intraoperative factors that affect the accuracy of distal deployment during TEVAR. Methods: We conducted a retrospective review of preoperative and postoperative computed tomography scans of 426 patients undergoing TEVAR at our institution between October 2008 and May 2021, of which the stent-graft was attempted to be deployed just above the celiac axis or the superior mesenteric artery in 56 patients. Based on the anatomical factors related to the malposition (deployed >10 mm away from the target vessel) and the greater curve to the straight-line ratio (G/S ratio), the patients were categorized as severe tortuosity (n=21) and mild tortuosity (n=35) groups to compare the operative and clinical outcomes. Result: Stent-graft malpositioning occurred in 21 cases. Among all anatomical variables, only the G/S ratio was significantly larger in the malpositioned cases (p=0.049). A cutoff G/S ratio value of 1.15 was determined using the receiver operating curve analysis. In the severe tortuosity group, the distal end of the stent-graft was significantly farther (median: 10.0 [interquartile range (IQR): 2.5–19.5] mm vs 3.0 [0–8.0] mm; p=0.015) from the target vessel, and the tilt angle of the stent-graft’s distal edge was larger (median: 21.4 [IQR: 15.8–24.5] vs 9.5 [5.5–12.5] degree; p<0.01) than that in the mild tortuosity group. Both groups were comparable for the incidence of a primary type Ib endoleak (p=0.454), a secondary type Ib endoleak (p=1.0), and the rate of distal reintervention (p=0.276). Conclusion: Severe tortuosity in the distal descending thoracic aorta is associated with a malpositioned and tilted distal end of the stent-graft. Clinical Impact Thoracic endovascular aortic repair (TEVAR) for paradiaphragmatic thoracic aortic aneurysms requires accurate distal landing. In this paper, a retrospective CT analysis revealed that the greater curve to the straight-line ratio (G/S ratio) was associated to affects the malposition of the stent graft, defined as being deployed more than 10 mm away from the target vessel. Further, a comparative analysis based on the G/S ratio demonstrated that severe aortic tortuosity was associated with a more distal and tilted deployment of the stent graft.

Coronary tortuosity in patients with acetylcholine-induced coronary microvascular spasm

Abstract Background Angina pectoris in the absence of relevant epicardial stenoses (ANOCA) is frequently caused by coronary microvascular spasm. It has been speculated that the morphology of epicardial coronary arteries is associated with microvascular spasm. One hypothesis is that the vasoconstriction of microvessels leads to intraluminal pressure increase in the vascular segments proximal to the spasm, which may shift the balance of vessel forces toward vessel elongation resulting in coronary tortuosity. Purpose We assessed the relationship between epicardial coronary tortuosity and coronary spasm to elucidate a potential relationship between structural and functional coronary abnormalities. Methods 610 patients (39% male, mean age 61 years) with stable angina yet unobstructed coronary arteries (&amp;lt;50% stenosis) were included in this study. All patients underwent invasive diagnostic coronary angiography followed by intracoronary acetylcholine (ACh) testing according to a standardized protocol. The ACh test was considered “positive” in the presence of (a) angina, ischemic ECG shifts during the test and ≥90% coronary diameter reduction (“epicardial spasm”) or (b) all above without epicardial spasm (“microvascular spasm”). Assessment of coronary tortuosity was performed using left and right coronary images in multiple projections in a blinded fashion. The number and angles of the coronary curves in late diastole determined the severity of coronary tortuosity previously defined by Eleid. Patients were divided into those with at least moderate tortuosity versus those with no or mild tortuosity. Results ACh-testing revealed epicardial spasm in 179 (29%) and microvascular spasm in 172 (28%) patients. The ACh-test was negative/inconclusive in the remaining 259 patients (43%). There were 298 patients (49%) with at least moderate coronary tortuosity. The remaining 312 patients had no or mild coronary tortuosity (51%). Patients with at least moderate tortuosity were more likely to have microvascular spasm (99 patients of 172 with microvascular spasm had at least moderate coronary tortuosity (58%) vs. 76 patients of 179 with epicardial spasm (43%) vs. 126 patients of 259 with negative/inconclusive ACh test (49%), p=0.017). Analysis of coronary tortuosity in patients with positive ACh-test showed that patients with at least moderate coronary tortuosity (n=175) had significantly more microvascular spasm (57%) than epicardial spasm (43%) (p=0.005). We also found that at least moderate coronary tortuosity was significantly more often found in patients with hypertension compared to patients without hypertension (230/438 vs. 71/172, p=0.015). Conclusions In this large cohort of ANOCA patients coronary tortuosity was associated with hypertension and microvascular spasm. Our results provide interesting insights into the relationship of coronary morphology and vasomotor function. Funding Acknowledgement Type of funding sources: Foundation. Main funding source(s): Berthold-Leibinger-Foundation, Ditzingen, Germany

Relation Between Coronary Tortuosity and Vasomotor Dysfunction in Patients Without Obstructed Coronaries?

Background: A large proportion of patients with angina and no obstructive coronary artery disease (ANOCA) has underlying coronary vasomotor dysfunction (CVDys), which can be diagnosed by a coronary function test (CFT). Coronary tortuosity is a common angiographic finding during the CFT. Yet, no data exist on the association between vasomotor dysfunction and coronary tortuosity.Aim: To investigate the association between CVDys and coronary tortuosity in patients with ANOCAMethods: All consecutive ANOCA patients who underwent clinically indicated CFT between February 2019 and November 2020 were included. CFT included acetylcholine spasm testing to diagnose epicardial or microvascular spasm, and adenosine testing to diagnose microvascular dysfunction (MVD). MVD was defined as an index of microvascular resistance (IMR) ≥ 25 and/or coronary flow reserve (CFR) <2.0. Coronary tortuosity, was scored (no, mild, moderate or severe) based on the angles of the curvatures in the left anterior descending (LAD) artery on angiography.Results: In total, 228 patients were included (86% female, mean age 56 ± 9 years). We found coronary artery spasm in 81% of patients and MVD in 45% of patients (15%: abnormal CFR, 30%: abnormal IMR). There were 73 patients with no tortuosity, 114 with mild tortuosity, 41 with moderate tortuosity, and no patients with severe tortuosity. No differences were found in cardiovascular risk factors or medical history, and the prevalence of CVDys did not differ between the no tortuosity, mild tortuosity and moderate tortuosity group (82, 82, and 85%, respectively).Conclusion: In this study, CVDys was not associated with coronary tortuosity. Future experimental and clinical studies on the complex interplay between coronary tortuosity, wall shear stress, endothelial dysfunction and coronary flow are warranted.

Idiopathic intracranial hypertension secondary to iron‐deficiency anaemia

AbstractPurposeTo present a case of idiopathic intracranial hypertension (IIH) in a 21‐year‐old female patient in whom iron‐deficiency anaemia was the primary risk factor.MethodsCase report and review of the scientific literature.ResultsA 21‐year‐old female presented to eye casualty with a 3‐day history of intermittent blurring of vision in both eyes. She denied any significant headache. Visual acuity was 6/6 in both eyes, colour vision was normal and there was no RAPD. However, dilated fundal examination revealed bilateral optic disc oedema. A CT scan of brain/orbits demonstrated a partially empty sella and mild vertical tortuosity of the optic nerves. A lumbar puncture was performed and the CSF opening pressure was elevated at 30cmH2O. These findings were consistent with a diagnosis of IIH. The patient lacked common risk factors for IIH: her body mass index was not elevated and she had not previously been prescribed tetracycline antibiotics, hormonal contraceptives or high‐dose vitamin A derivatives. However, she did have a history of excessive consumption of the oral analgesic Nurofen Plus (ibuprofen plus codeine). This had caused profound iron‐deficiency anaemia and her haemoglobin level two weeks prior to this presentation was 71 g/L. A review of the literature found three retrospective studies that examined the role of anaemia in IIH. While one study did not find any statistically significant associated between anaemia and IIH, two found that treating anaemia is associated with a faster recovery and better prognosis in patients with IIH. Correction of anaemia alone can lead to resolution of IIH.ConclusionsIdiopathic intracranial hypertension is a complex condition and the most important neurological manifestation is papilloedema, which may lead to progressive optic atrophy and visual loss. Anaemia appears to be a risk factor for IIH and a full blood count should be included in the routine investigation of these patients.

AB0737 THE NAIL FOLD CAPILLAROSCOPIC FINDINGS OF ADOLESCENTS WITH ANOREXIA NERVOSA AND BULIMIA NERVOSA

Background:The nail fold video capillaroscopy (NVC) is usually performed on patients with microcirculation problems, such as Raynaud’s phenomenon. It is also used to distinguish between primary and secondary Raynaud’s Phenomenon and identify the scleroderma pattern.Objectives:To describe the acute phase nail fold capillaroscopic findings of adolescents with anorexia nervosa (AN) and bulimia nervosa (BN) and to compare these findings with adolescents diagnosed with primary Reynaud’s phenomenon (RP).Methods:We included 17 AN, 2 BN patients and 6 adolescents with primary RP as a control group. The nail fold video capillaroscopy (NVC) data of three study groups were compared. AN and BN patients were classified according to DSM-5. The participants in these two groups were assessed for the presence of Reynaud’s phenomenon/acrocyanosis and the weight loss history (amount and duration), daily calorie intake, vital signs, hydration status, amenorrhea presence and time, the presence and frequency of compensatory behaviors, and drug usage were recorded. Adolescents with primary RP were diagnosed according to ‘International consensus criteria for the diagnosis of RP. The initial NVC was performed at the acute phase of AN and BN. For AN acute phase is defined as the period where the nutritional rehabilitation has not yet taken place. The NVC analysis was be performed with a digital USB microscopy by an expert blinded to the participant’s clinical status and diagnosis. Eight fingers were evaluated for each patient and average of all fingers’ scores were used as quantitative measures.Results:Among adolescents with AN, 14 of them had enlarged capillaries (capillary diameter 20-50 μm) and 6 of them had mild tortuosity (&lt;50%) which were considered as minor capillaroscopic changes. 5 patients had at least one giant capillary (&gt;50μm), 3 of them had microhemorrhages, 4 of them had capillary ramifications, and 1 of them had capillary disorganization which were considered as major capillaroscopic changes. Two adolescents had capillary loss (6 capillaries/mm). None of them had active or late phase scleroderma findings. In the primary RP group, there were minor findings as five adolescents had mild capillary dilation (capillary diameter 20-50 μm), and 5 had mild tortuosity (&lt;50%). However, none had scleroderma (early-active-late phase) findings. Microangiopathy assessment scores revealed no difference between the AN patients with and without RP and primary RP patients.(Table 1) A positive correlation was found between capillary ramification scores and initial daily calorie intake (r: -0.47; p=0.04).Table 1.Measurements of capileroscopy findings according to patient groupsAN+RP+n=4AN+RP-n=13BNn=2Primer RP kontroln=6pMicroangiopathy score0.84 (IQR 0.98)0.92 (IQR 0.96)0.710.65 (IQR0.23)0.62•Capillary loss score0.22 (IQR 0.62)0.06 (IQR 0.41)0.150.0 (IQR 0.26)0.58•Capillary ramification score0.18 (IQR 0.25)0.13 (IQR 0.25)0.090.09 (IQR 0.18)0.88•Disorganized capillaries score0.38 (IQR 0.48)0.56 (IQR 0.68)0.460.43 (0.32)0.98Enlarged capillaries score (20-50 μm)0.56 (IQR 0.78)0.31 (IQR 0.72)0.730.58 (IQR 0.42)0.60Giant capillaries score (&gt;50 μm)0.06 (IQR 0.22)0.00 (IQR 0.03)0.180.03 (0.14)0.14Microhaemorrhage score0.000.000.000.010.67Conclusion:Preliminary results of our study suggest that adolescents with AN are at risk for vasculopathy especially during the acute phase of the disease.

Correlation between Coronary Artery Tortuosity and Stenosis in Patients with Myocardial Bridge

Objective To analyze the correlation between tortuosity and stenosis in patients with myocardial bridge(MB)on the left anterior descending artery(LAD). Methods Data of patients with MB on the LAD,which was discovered by coronary computed tomography angiography(CCTA),in the Affiliated Hospital of North China University of Science and Technology from October 2015 to December 2018 were retrospectively analyzed.Among them 278 patients with tortuosity on LAD and 278 patients without tortuosity were selected.The clinical charateristics(age,gender,hypertension,hyperlipidemia,diabetes,smoking history,and family history)as well as the incidence and severity of stenosis of LAD were recorded and compared. Results The incidence of coronary artery stenosis in the non-tortuosity group(57.6%)was significantly lower than that in the tortuosity group(71.9%)($\bar{χ}$=12.608,P<0.001).It was also significantly higher in mild tortuosity group(78.5%)than in non-tortuosity group(57.6%)($\bar{χ}$=20.462,P<0.001)and moderate tortuosity group(61.5%)($\bar{χ}$=7.872,P=0.005).The degree of coronary artery stenosis was significantly different between tortuosity group and non-tortuosity group,and the tortuosity group was more likely to have more severe stenosis than the non-tortuosity group(Z=-3.292,P=0.001).The stenosis degree of the patients with no,mild,moderate and severe tortuosity was significantly different(H=17.787,P<0.001),and the differences had a rank correlation(rs=0.169,P=0.000).However,the incidence of stenosis was not significantly different among the none,moderate,and severe tortuosity groups(all P>0.05).There was no significant difference among the incidence of stenosis among the mild,moderate,and severe coronary artery tortuosity group(all P>0.05). Conclusions Patients with coronary artery tortuosity are more likely to have coronary artery stenosis than those without tortuosity.The stenosis rate in patients with mild tortuosity is higher than in patients without tornuosity or with moderate tortuosity.Patients with mild tortuosity are more likely to experience more severe stenosis,while those without tortuosity are more likely to have milder stenosis.

Visual cortex changes in children with sickle cell disease and normal visual acuity: a multimodal magnetic resonance imaging study.

The visual system is primarily affected in sickle cell disease (SCD), and eye examination is recommended starting in late childhood. So far, to our knowledge, all studies have focused on the retina, neglecting the changes that might be present in the cortical portion of the visual system. We performed a multimodal magnetic resonance imaging (MRI) evaluation of the visual cortex in 25 children with SCD (mean age: 12·3±1·9 years) and 31 controls (mean age: 12·7±1·6 years). At ophthalmologic examination, 3/25 SCD children had mild visual acuity deficits and 2/25 had mild tortuosity of the retinal vessels. None showed optic pathway infarcts at MRI or Transcranial Doppler abnormal blood velocities, and 6/25 disclosed posterior cerebral artery stenosis (five mild and one severe) at MR-angiography. Compared to controls, SCD children had increased posterior pericalcarine cortical thickness, with a different trajectory of cortical maturation and decreased connectivity within medial and ventral visual neural networks. Our findings suggest that SCD affects the development and the tuning of the visual cortex, leading to anatomical and functional changes in childhood even in the absence of retinopathy, and set the basis for future studies to determine if these changes can represent useful predictors of visual impairment in adulthood, biomarkers of disease progression or treatment response.

Association of the long fluoroscopy time with factors in contemporary primary percutaneous coronary interventions.

BackgroundSince the long fluoroscopy time in primary PCI for ST-segment elevation myocardial infarction (STEMI) could be an indicator of delayed reperfusion, it should be important to recognize which types of lesions require longer fluoroscopy-time in primary PCI. The purpose of this study was to investigate the association of the long fluoroscopy-time with clinical factors in primary percutaneous coronary interventions (PCI).MethodsA total of 539 patients who underwent primary PCI were divided into the conventional fluoroscopy-time group (Q1-Q4: n = 434) and the long fluoroscopy-time group (Q5: n = 105) according to the quintile of the total fluoroscopy time in primary PCI. Univariate and multivariate logistic regression analyses were performed to find associations between clinical variables and the long fluoroscopy-time.ResultsIn univariate logistic regression analysis, prevalence of diabetes mellitus, hemodialysis, and previous CABG were significantly associated with the long fluoroscopy-time. In addition, complex lesion characteristics such as lesion length, lesion angle, tortuosity, and calcification were associated with the long fluoroscopy-time. In multivariable logistic regression analysis, lesion length [per 10 mm incremental: odds ratio (OR) 1.751, 95% confidence interval (CI) 1.397–2.195, P<0.001], moderate-excessive tortuosity (vs. mild tortuosity: OR 4.006, 95% CI 1.498–10.715, P = 0.006), and moderate to severe calcification (vs. none-mild calcification: OR 1.865, 95% CI 1.107–3.140, P = 0.019) were significantly associated with the long fluoroscopy-time.ConclusionsIn primary PCI for STEMI, diffuse long lesion, tortuosity, and moderate-severe calcification were associated with the long fluoroscopy-time. These complex features require special attention to reduce reperfusion time in primary PCI.

The role of MRA in pediatric sickle cell disease with normal transcranial Doppler imaging velocities

PurposeThe purpose of this study was to determine the additional information provided by Magnetic Resonance Angiography (MRA) in pediatric sickle cell disease (SCD) patients with normal Transcranial Doppler imaging (TCDI) examinations. MethodsThis cohort study included all pediatric SCD patients over an 18-year period who had no history of stroke and had normal TCDI examinations and subsequently underwent MRA. Routine TCDI inclusive of time-averaged mean of maximum velocities (TAMMV) were assesses and compared with tortuosity on MRA and silent infarct on MRI. Results86 children (52.3% female; mean age 8.7 ± 3.5years) were included. There were 77 patients (89.5%) with Hb-SS disease and 9(10.4%) with HB-S beta-thalassemia. All patients had normal TAMMV (<170 cm/s) on TCDI. 76/86 (88.3%) patients also had one or more velocity readings <70 cm/s, albeit none in the middle cerebral arteries. Posterior cerebral arteries had the lowest velocities, <70 cm/s in 51.7% (right) and 60.9% (left). Silent MRI infarcts were seen in 27/86 (31.4%) patients. No new lesions were identified on follow-up MRI. Although mild vascular tortuosity was appreciated in 31/86 (36.0%) of the patients, there were no steno-occlusive lesions in the circle of Willis. ConclusionsTCDI and MRA are routinely performed for non-invasively evaluating intracranial vascular abnormalities in children with SCD. In SCD children with no history of TIA or stroke, MRA following a normal TCDI examination is unlikely to show vascular abnormality. However, almost a third of these patients show silent infarcts on MRI, unassociated with MRA changes.

Abstract TP45: Impact of Carotid Tortuosity on Outcome After Endovascular Thrombectomy

Background: Endovascular thrombectomy (EVT) is effective in patients with large vessel occlusion (LVO) stroke. We hypothesized that a tortuous internal carotid (ICA) may increase the technical difficulty of EVT and prevent optimal positioning of aspiration catheters thereby lowering the chances of successful recanalization and likelihood of favorable outcome. Patients and Methods: Consecutive patients with LVO and patent cervical ICAs who underwent EVT at 2 academic centers were included. Demographics, clinical and radiological factors, time metrics, occurrence of symptomatic intracranial hemorrhage (sICH), functional outcome and survival data were collected. ICA tortuosity was determined on pre-EVT sagittal maximal intensity projection images and classified into three categories: type 1 - straight ICA trunk, type 2 - moderate degree of tortuosity not judged to impair distal catheter placement and type 3 - severe tortuosity preventing optimal aspiration catheter placement. Thrombolysis in cerebral infarction (TICI) 2b-3 was considered successful recanalization and modified Rankin Scale (mRS)≤2 90days post stroke was considered favorable outcome. Results: The study included 313 patients (mean age 69±15, median NIHSS 17), and 53% had type 1, 33% type 2 and 14% type 3 ICA tortuosity. Severe tortuosity was significantly less common in patients with atrial fibrillation (p=0.032) but no other factors were associated with the degree of tortuosity. Overall, 85% had successful recanalization and 47% had favorable outcomes. The chances of favorable outcome at 90days were independent of the degree of observed tortuosity (53% type1, 32% type2 and 49% type3 respectively, p=0.94). Similarly, mortality rates, chances of succesful recanalization and sICH rates did not differ between the tortuosity groups. Clustering patients with moderate and severe tortuosity into one group showed that those with marked tortuosity were significantly older (74±12 vs. 65±16; p&lt;0.0001) and less frequently achieved successful recanalization (79% vs. 89%; p=0.018) but had similar functional outcomes and survival rates compared to those with mild tortuosity. Conclusions: Carotid tortuosity does not impact functional outcome but may influence recanalization rates.

Various Retinal Vascular Manifestations of Neurofibromatosis-1 in a Single Patient

Objectives: To report an Iranian woman with a variety of retinal vascular manifestations secondary to Neurofibromatosis -1.Case Report: A 49 years old woman known case of Neurofibromatosis-1 (NF-1) presented with decreased vision in her right eye. We found peculiar retinal and choroidal findings. Mild vascular tortuosity and few hard exudates were the prominent finding in right eye fundus examination; however, left eye showed inferior hemi retinal artery macro aneurysm. Fluorescein angiography, revealed multiple bright choroidal nodules in both eyes. Left eye findings were in favor of branch retinal artery occlusion and branch retinal vein occlusion. Discussion: As vascular and microvascular manifestations of NF-1 are being reported recently, further investigational studies for retinal vascular associations in NF-1 patients appears reasonable. Complete ophthalmic examinations in each NF-1 patient seems essential to prevent potential threatening complications of vascular events in these patients.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

BackgroundLoeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability.Case presentationWe report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, bifid uvula, and inguinal hernias and oculocutaneous albinism (OCA) manifesting by white hair and skin that does not tan, nystagmus, reduced iris pigment with iris translucency, and reduced retinal pigment). We identified previously reported, homozygous mutations of TYR, c.1A > G (p.Met1Val) and heterozygous, missense mutation of TGFBR1, c.1460G > A (p.Arg487Gln). Family history revealed that his mother underwent multiple surgical repairs for recurrent hemorrhage originating from the buccal artery. Molecular studies confirmed a maternally inherited low grade TGFBR1 mutation somatic mosaicism (18% in peripheral blood leukocytes, 18% in buccal cells and 10% in hair root cells). Maternal cardiac investigations revealed peculiar cardiovascular features: mild tortuosity at the aortic arch, dilatation of the proximal abdominal aorta, multiple deep left ventricular myocardial crypts, and dysplastic mitral valve. TGFBR2 germline mosaicism has been described in three fathers of children carrying TGFBR2 mutations but, to the best of our knowledge, no case of maternally inherited TGFBR1 mutation mosaicism has been reported so far.ConclusionsThis case report suggests that individuals with somatic mosaicism might be at risk for mild and unusual forms of LDS but germline mosaicism can lead to full blown picture of the disease in offspring.

Stent retrievers with segmented design improve the efficacy of thrombectomy in tortuous vessels

IntroductionTortuous vascular anatomy is one of the greatest challenges in mechanical thrombectomy. This study examines the impact of vascular tortuosity on the performance of stent retrievers and evaluates the efficacy...

Correlation of Coronary Artery Tortuosity Caused by Myocardial Bridge with Coronary Atherosclerosis

Objective To evaluate the potential correlation between coronary artery tortuosity caused by myocardial bridge and coronary atherosclerosis. Methods The data of 88 patients with suspected coronary heart disease in the Affiliated Hospital of North China University of Science and Technology during the period from March 2015 to June 2016 were retrospectively analyzed.Coronary artery tortuosity caused by myocardial bridge was diagnozed by computed tomography coronary angiography.Meanwhile,the contemporary data of patients diagnosed with coronary artery tortuosity without myocardial bridge were selected as the control group.The coronary atherosclerosis as well as coronary artery stenosis were observed,and clinical data including age,gender,hypertension,hyperlipidemia,diabetes,smoking history,family history,and body mass index(BMI) were collected and compared.The incidence of coronary atherosclerosis in terms of whole coronary artery,anterior segment of tortuosity,tortuosity segment,and posterior segment of tortuosity was compared firstly,followed by the comparisons of the differences in coronary artery stenosis degree in terms of anterior segment of tortuosity,tortuosity segment,and posterior segment of tortuosity.Finally,the differences of the incidence of coronary atherosclerosis in the complete MB group,incomplete MB group,and non-MB group with different degrees of tortuosity were compared.Results The incidences of coronary atherosclerosis on whole coronary artery(χ2=15.565,P=0.000),anterior segment of tortuosity(χ2=8.606,P=0.003),tortuosity segment(χ2=13.475,P=0.000) and posterior segment of tortuosity(χ2=4.314,P=0.038) in the MB group were significantly lower than those in the non-MB group.The incidences of mild stenosis in anterior segment of tortuosity(χ2=6.988,P=0.008),tortuosity segment(χ2=10.050,P=0.002),and posterior segment of tortuosity(χ2=4.314,P=0.038) in the MB group were significantly lower than those in the non-MB group.However,the incidences of moderate and severe stenosis on anterior segment of tortuosity(χ2=0.586,P=0.444),tortuosity segment(χ2=1.356,P=0.244),and posterior segment of tortuosity were not significantly different between these two groups.The incidence of coronary atherosclerosis on anterior segment of tortuosity of mild(χ2=13.526,P=0.000) and moderate tortuosity(Fisher exact probability,P=0.015) in the complete MB group was significantly lower than that in the non-MB group;however,the severe tortuosity was not significantly different(Fisher exact probability,P=0.155).The incidence of coronary atherosclerosis on anterior segment of tortuosity of mild tortuosity(χ2=9.167,P=0.002) in the incomplete MB group was significantly lower than that in the non-MB group;however,no significant difference of moderate(Fisher exact probability,P=0.047) and severe tortuosity(Fisher exact probability,P=0.031) was identified between these two groups(P>0.0167).Finally,no significant difference of the incidence of coronary atherosclerosis on anterior segment of tortuosity of mild(χ2=1.239,P=0.266),moderate(Fisher exact probability,P=1.000),and severe tortuosity(Fisher exact probability,P=1.000) was identified between the complete MB group and the incomplete MB group.Conclusions Compared with non-MB patients,patients with coronary artery tortuosity caused by MB(especially complete MB) tend to have lower incidences of coronary atherosclerosis and mild coronary stenosis.However,coronary artery tortuosity caused by MB is not correlated with moderate or severe coronary stenosis.

Characterization of Vessel Deformations During EVAR: A Preliminary Retrospective Analysis to Improve Fidelity of Endovascular Simulators

During endovascular aneurysm repair (EVAR), vessel deformations occur due to the insertion of tools and deployment of stent grafts in the arteries. We present a method for the characterization of vessel deformations during EVAR, and its application on patient datasets for a preliminary retrospective analysis that may be used to improve fidelity of endovascular simulators. The method provides the extraction of vessel profiles from intraoperative fluoroscopic images and the calculation of a tortuosity index in the 2D fluoroscopy view (τ2D) used to quantify the vessel deformations (δ%) during EVAR caused by the stiff guidewire insertion (δ%Stiff) and the stent graft deployment (δ%Graft), when compared with the undeformed vessel configuration (no device inserted). We applied the method to analyze retrospectively 7 EVAR patient datasets, including vasculature anatomies with different grades of vessel tortuosity or calcification: 2 patients (Pts) with absent tortuosity and mild calcification, 2 with mild tortuosity and mild calcification, 2 with severe tortuosity and mild calcification, and 1 with severe tortuosity and severe calcification. The analysis was focused on deformations of the left common iliac artery (LCIA), which is one of the arterial segments most affected by deformations. In patients with mild LCIA calcification, the vessel straightening effect due to the stiff guidewire insertion increases as the severity of LCIA tortuosity increases (δ%Stiff = 0 ± 2%, -19 ± 2%, -45 ± 2% for absent, mild, and severe tortuosity, respectively). In patients with mild/severe LCIA tortuosity, the artery with the deployed graft seems to retain part of the straightening effect caused by the stiff guidewire (δ%Graft = -9 ± 3%, -31 ± 2%, for mild and severe tortuosity, respectively). In case of severe LCIA calcification, the stiff guidewire causes only a slight straightening effect (δ%Stiff = -12%) despite the severe vessel tortuosity. The method was effective in characterizing real vessel deformations during EVAR. Results gave evidence of a relationship between the obtained deformations and the anatomical vessel conformation. These results may be useful to drive predictive models of vessel deformations during EVAR to be implemented in endovascular patient-specific simulators for improving their fidelity.

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.

Bacterial emphysematous prostatic abscess – A case report

s / Urological Science 26 (2015) 301e310 310 Materials and Methods: An 82 years old female patient presented to the Emergency Department with feeling unwell, pyrexia, gross hematuria, nausea and abdominal pain. She gave a history of type 2 Diabetes mellitus with regular follow-up in our hospital. A large right renal mass was detected near 4 years ago. However, she and family refused operation since then due to old age. On examination she looked weakness. A mass was palpable in the right upper quadrant and lumbar region. Liver and spleen were not palpable. There were no signs of peritonitis. Her pulse rate was 121/minute, BP 189/104 and temp 39.3 degree. She had blood tests in the Emergency Department which revealed the following: Hb 15.6 g/dL, WBC 11,400 and platelets 202,000. Electrolytes were as follows: Na 136 mmol/ litre, K 3.3 mmol/litre, BUN: 12, creatinine: 0.8, blood sugar: 213. Chest X ray showed 1) Mild coarse and crowding lung markings, some infiltration in bilateral lungs; but no focal active lung lesion. 2) Borderline cardiomegaly and mild tortuosity of aorta with some calcified atheroma plaques of aortic arch wall.. The patient had ultrasound scanwhich showed mass in the right kidney. Computerised tomography (CT) scan image of abdomen showed anterior upper pole tumor 9.5 x 12 x9.0 cm in size with heterogeneous enhancement and area of necrosis. Extension to perirenal fat and renal sinus fat but not Gerota fascia. Positron emission tomography (PET) revealed: 1. F-18 FDG avid lesion in the left thyroid, malignancy should be considered. 2. Right paraaortic lymph node metastases should be considered. She underwent right-side radical nephrectomy after full staging procedures and appropriate investigations. NDP32: BACTERIAL EMPHYSEMATOUS PROSTATIC ABSCESS e A CASE REPORT Chih-Cheng Lu, Wen-Chou Fan. Division of Urology, Department of Surgery, Chi Mei Medical Center, Liouying, Tainan, Taiwan Purpose: We present a case of emphysematous prostatic infection complicated with multiple organs abscess by Klebsiella pneumoniae. Materials and Methods: A 47 year-old male patient suffered from uncontrolled diabetes. Four days before admission, he had fever and general weakness. He visited our emergent department after empirical treatment at local clinic. After admission, intensive care was given due to diabetic ketoacidosis and septic shock. Although multiple drains for liver and lung, spiking fever persisted. Sequential CT showed air and abscess in the prostate region. Urgent transurethral prostate incision was done to drain the abscess. Afterwards, the general condition became stable. He was discharged with oral antibiotics and antidiabetic drugs. After one year followup, the patient kept uneventful condition with tight diabetic control. Conclusion: Emphysematous prostatic abscess is an unusual acute disease with high morbidity and mortality. The predisposing factors include diabetes mellitus, hepatic cirrhosis, and intravesical obstruction. CT provides a good tool for immediate diagnosis. Treatment of prostatic abscess includes parenteral antibiotics and abscess drainage. Transperineal needle aspiration, transrectal needle aspiration, open perineal incision, and transurethral resection or unroofing are available routes for drainage.