Search

Background: Individuals with Sturge-Weber syndrome (SWS) often expereince intractable epilepsy and cognitive decline. We hypothesized that the extent of the leptomeningeal capillary malformation (LCM) may correlate with the severity of neurological impairment due to SWS. We tested the hypothesis in a cross-sectional study of seizure severity and electroencephalographic (EEG) findings and a retrospective cohort study for surgical indications related to the extent of the LCM.Methods: We enrolled 112 patients and classified them according to LCM distribution: (1) bilateral, (2) hemispheric, (3) multilobar, and (4) single lobe. Age at seizure onset, seizure semiology and frequency, and EEG findings were compared. Surgical indications were evaluated for each group by Fisher exact test, and predictors for surgery were evaluated by univariate and multivariate analyses. Therapeutic efficacy was evaluated by the SWS-Neurological Score (SWS-NS).Results: The bilateral and hemispheric groups had early seizure onset (4.0 months old and 3.0 months old), frequent seizures (88.9% and 80.6% had more than one per month), focal-to-bilateral tonic-clonic seizures (88.9% and 74.2%), and status epilepticus (100% and 87.1%). The groups' EEG findings did not differ substantially. Surgical indications were present in 77.8% of the bilateral, 88.1% of the hemispheric, and 46.8% of the multilobar groups. Seizure more than once per month was a predictor of surgical treatment. Seizure subscore improved postoperatively in the hemispheric and multilobar groups. Even after surgical treatment, the bilateral and hemispheric groups exhibited higher SWS-NSs than members of the other groups.Conclusion: Our study demonstrated a strong association between extensive LCM and epilepsy severity. Surgical intervention improved seizure outcome in patients with SWS with large LCMs. [ABSTRACT FROM AUTHOR]

Background: Based on clinical observations we hypothesized that patients with intramuscular venous malformations (VMs) did worse or needed more sclerotherapy sessions than patients with extramuscular VMs. Purpose: To evaluate the difference in treatment and quality of life (QOL) results after Polidocanol sclerotherapy of intra- and extramuscular low-flow VMs. Material and methods: Forty-one patients with a VM were treated with Polidocanol in two university hospitals. The results were retrospectively analyzed. Pre- and post-treatment magnetic resonance imaging (MRI) scans were compared. All patients completed a self-evaluating form on symptoms as well as a QOL questionnaire. The results were compared between two groups: intra- and extramuscular VM's. Results: No statistically significant differences between intra- and extramuscular groups concerning QOL and specific dimensions pain, functional problems or cosmetic appearance were found. Radiological changes in MRI examinations did not correlate with any of the subjective symptoms. 56% of the patients benefitted from the treatment according to patient self-evaluation. Conclusion: In this material intramuscular VM's responded to the treatment comparably to extramuscular malformations. Post-treatment MRI findings do not correlate with subjective symptoms or QOL results and thus, a routine post-treatment examination seems to be unwarranted. Subjective symptoms and QOL results are the most important parameters in evaluating the effectiveness of sclerotherapy. [ABSTRACT FROM AUTHOR]

Background: Anatomic variation may increase the difficulty and risk of anatomic segmentectomy. The preoperative three-dimensional computed tomography bronchography and angiography (3D-CTBA) can provide a detailed model of the segmental structure, and contribute to precise and safe segmentectomy.Case Presentation: This is a case of anomalous bronchi and pulmonary vessels in the right upper posterior segment (RS2). Under the guidance of 3D-CTBA, anatomic RS2 segmentectomy was performed accurately and safely. The postoperative condition was uneventful.Conclusions: This rare case highlights the importance of 3D-CTBA to guild accurate segmentectomy with anatomic variation. [ABSTRACT FROM AUTHOR]

Mutations in the RASA1 gene are known to cause arteriovenous malformations (AVMs), with evidence of associated lymphatic malformations. We report for the first time, to the best of our knowledge, an infant with RASA1 mutation presenting with hydrops fetalis and chylothorax, but without an associated AVM. Previously, researchers studying rodents have found chylothorax associated with RASA1 mutations, and, in previous case reports, researchers have reported on infants with RASA1 mutations born with hydrops fetalis and AVMs. In this report, we describe the case of a "late preterm" female infant born with nonimmune hydrops fetalis and congenital chylothorax who was detected to have a RASA1 deletion on genetic workup. Although classically described phenotypes of RASA1 mutations present with venous malformations, no such malformations were found in this infant on extensive imaging. This combination is a novel and nonclassic presentation of RASA1 mutation. In cases of congenital chylothorax, especially with nonimmune hydrops fetalis, RASA1 mutations should be considered as part of the differential diagnosis and genetic testing should be included as part of a complete workup to allow for screening for associated vascular anomalies. [ABSTRACT FROM AUTHOR]

Background: Capsule endoscopy (CE) and double-balloon enteroscopy (DBE) have provided great help in the diagnosis and treatment of small bowel diseases (SBD). The aim of this study was to explore the positive rate and diagnostic value of CE and DBE for patients who were suspected of having SBD, and to make a comparison between the two methods. Methods: A retrospective study was conducted to analyze the cases at Renmin Hospital of Wuhan University. We divided the patients into CE and DBE group, and recorded the basic characteristics of the patients, checking the results of CE and DBE, positive rate, sensitivity and specificity for statistical analysis. Results: A total of 244 patients were included in our research, including 122 in the CE group and 122 in the DBE group. The positive rate of CE for intestinal diseases was 84.4%, higher than that of DBE (78.7%), but DBE (75.2% and 92.3%) had higher sensitivity and specificity than CE (70.5% and 88.2%), though the differences were not statistically significant. The three most common positive findings in patients were inflammation, erosion, or ulcers (28.7%), vascular malformations (14.3%), and eminence lesions (9.0%). CE had a higher rate detection of inflammation, erosion, or ulcers than DBE (36.1% vs 21.3%), but they both had high positive rates for vascular malformations (13.9% and 14.8%). In addition, both methods had higher positive rates in patients with gastrointestinal bleeding compared to other symptoms. Conclusion: CE and DBE are both important methods for intestinal examination. Patients can choose appropriate tests according to their condition. [ABSTRACT FROM AUTHOR]

Background Balloon-assisted techniques can improve the endovascular treatment of cerebrospinal vascular malformations. The aim of this study was to report the first clinical multicenter experience with the new Scepter Mini dual-lumen microballoon catheter. Methods Patients with cerebral or spinal vascular malformations treated with the Scepter Mini at seven European neurovascular centers were retrospectively reviewed. Clinical data, angiographic features of the vascular malformations, procedural parameters including the type of application, navigability, technical failures, complications and embolization success were assessed. Results The usage of 34 Scepter Mini microballoon catheters in 20 patients was analyzed. Most treated malformations (80.0%) were cerebral arteriovenous malformations. Four different applications were reported: embolization via Scepter Mini (n=23, 67.6%), balloon-occlusion with simultaneous embolization via a second microcatheter (n=3, 8.8%), diagnostic angiography with simultaneous balloon-inflation for flow arrest (n=4, 11.8%), and navigation support (n=4, 11.8%). The mean diameter of the blood vessels in which the Scepter Mini was inflated was 1.9±0.5 mm. The navigability of the Scepter Mini was rated as 'easy' or 'very easy' in 88.2% of cases. Complete occlusion of the malformation was achieved in 60.9% of cases. Technical failures occurred in 4/23 embolization procedures, and all were related to insufficient stability of the balloon within the vessel. No complications related to the Scepter Mini were observed, while unrelated complications occurred in three patients (15.0%). Conclusions The Scepter Mini is a promising new device for balloon-assisted embolization of cerebrospinal vascular malformations via small feeders. Beyond embolization, the Scepter Mini can also be used for other applications, such as superselective flow arrest and navigation support. [ABSTRACT FROM AUTHOR]

Objectives To assess the safety and efficacy of rapamycin in treating children with vascular tumours and malformations. Study design We performed a retrospective review at a large tertiary care paediatric centre to assess the efficacy and safety of using rapamycin to treat vascular tumours and malformations. Response to therapy was defined by patient-reported symptom improvement, radiological reduction in size of lesions, and/or improvement of laboratory parameters. Results Forty-two patients (7 with vascular tumours and 35 with vascular malformations) have been treated with rapamycin. Despite 33 of 42 patients being diagnosed in the first year of life, the median age of initiating rapamycin was 11 years. Of the 38 children treated for a minimum of 4 months, 29 (76%) exhibited a clinical response. Twenty-one patients had follow-up imaging studies and of these, 16 (76%) had radiographic decrease in lesion size. Median time to demonstration of response was 49 days. All five children with vascular tumours and all three children with vascular malformations under the age of 4 years showed a clinical response. Response rate was lower for children ≥ 4 years of age (0/2, 0% for vascular tumours; 21/28, 75% for vascular malformations). No patient experienced an infection directly related to rapamycin or discontinued rapamycin due to toxicity. Conclusions Rapamycin is safe and efficacious in most children with select vascular tumours and malformations. Young children appear to respond better, suggesting that early initiation of rapamycin should be considered. [ABSTRACT FROM AUTHOR]

Venous malformation is one of the slow-flow vascular malformations. Dysfunction of coagulation often occurs in most venous malformations, especially the diffuse and multifocal lesions, referred to as localized intravascular coagulopathy. It is characterized by the elevation of D-dimers and fibrin degradation products, low levels of fibrinogen, FV, FVIII, FXIII, and antithrombin III, and sometimes minor-to-moderate thrombocytopenia. Here we reviewed the clinical manifestations, pathogenesis, diagnosis, and treatment of localized intravascular coagulopathy in venous malformations. [ABSTRACT FROM AUTHOR]

Objective: To compare the incidence of right-sided versus left-sided, and unilateral versus bilateral, nonsyndromic clefting in the affected offspring of smoking and nonsmoking mothers. Design: Self-report data on periconceptual and first trimester smoking behavior were collected from 842 mothers of children with nonsyndromic orofacial clefting. Differences in the incidence of left- versus right-sided clefts, and of unilateral versus bilateral clefts, were analyzed between the children of smoking and nonsmoking mothers. Setting: Interviews and clinical examinations took place at 8 specialist centers in Germany. Patients and Participants: Children with nonsyndromic clefts were recruited during the course of surgical or orthodontic treatment, or within the context of the annual control consultation. Patients with cleft palate only or missing data were excluded. The final cohort comprised 842 patients (540 males and 302 females) with unilateral or bilateral clefts. The respective mothers were interviewed. Main Outcome Measure: Side and laterality of nonsyndromic clefts were the main outcome measures. Results: Children of smoking mothers more often had right-sided clefts than children of nonsmoking mothers (42% right-sided clefts in children of smoking mothers vs 31% of nonsmoking mothers). Children of smoking mothers more often had bilateral clefts than children of nonsmoking mothers (35% bilateral clefts in children of smoking mothers vs 29% of nonsmoking mothers). Sex-specific analyses confirmed substantially and statistically significant associations only for girls. Conclusions: The results suggest that maternal smoking is a sex-specific, exogenous determinant of laterality and side in nonsyndromic clefts. [ABSTRACT FROM AUTHOR]

The article presents the discussion on circulation of blood throughout the cardiovascular system resulting in biomechanical forces influencing vessel development and maintenance. Topics include transducing the stimuli into biochemical signals controling the proliferation, migration, cytoskeleton organization, and cell-cell adhesion; and multiple sensors existing both along the plasma membrane and at cell junctions relaying physical forces across the cell cytoplasm to the nucleus.

Lymphatic malformations are benign tumors rarely located in the gastro-intestinal tract. They are usually asymptomatic; however, they can cause clinical discomfort when enlarged. Imaging leads to diagnosis, but the confirmation can only be done through histology findings. We report the case of a 59-year-old male patient, admitted in our ward for melena, to which esophago-gastroduodenoscopy showed budding formations in the second portion of the duodenum wall, with Magnetic Resonance Imaging features and histological examination confirming diagnosis of a duodenal lymphatic malformation. [ABSTRACT FROM AUTHOR]

Propranolol is a nonselective β-adrenergic receptor (AR) blocker that has been the first-line therapy for problematic infantile hemangioma (IH), the most frequent childhood vascular tumor. Although IHs are benign and eventually regress spontaneously, at least 15% of patients require treatment. Despite the extensive use of propranolol for IH treatment, its mode of action remains unclear. In this issue of the JCI, Seebauer et al. investigated the cellular and molecular consequences of propranolol treatment on IH vascular tumor formation in a murine model of IH. The efficacy of propranolol was independent of its β-AR blocker activity and was attributable to the direct targeting of the transcription factor SOX18, which, in turn, reduced hemangioma blood vessel formation. We believe these results will guide clinical translation for the use of more efficient and safer therapies for IH and possibly for other vascular anomalies in which SOX18 plays a role. [ABSTRACT FROM AUTHOR]

The CLOVES syndrome is an overgrowth disease arising from mosaic activating somatic mutations in the PIK3CA gene. These mutations occur during fetal development producing malformation and overgrowth of a variety of tissues. It has recently been shown that treatment with low doses of a selective inhibitor of Class I PI3K catalytic subunit p110α, the protein product of the PIK3CA gene, can yield dramatic therapeutic benefits for patients with CLOVES and PROS (a spectrum of PIK3CA-related overgrowth syndromes). To assess the long-term effects of moderate loses of p110α activity, we followed development and growth of mice with heterozygous loss of p110α (Pik3ca+/−) over their entire lifetimes, paying particular attention to effects on the brain. While homozygous deletion of the Pik3ca gene is known to result in early embryonic lethality, these Pik3ca+/− mice displayed a longer lifespan compared to their wild-type littermates. These mice appeared normal, exhibited no obvious behavioral abnormalities, and no body weight changes. However, their brains showed a significant reduction in size and weight. Notably, mice featuring deletion of one allele of Pik3ca only in the brain also showed gradually reduced brain size and weight. Mechanistically, either deletion of p110α or pharmacological inhibition of p110α activity reduced neurosphere size, but not numbers, in vitro, suggesting that p110α activity is critical for neuronal stem cells. The phenotypes observed in our two genetically engineered mouse models suggest that the sustained pharmacological inhibition of the PIK3CA activity in human patients might have both beneficial and harmful effects, and future treatments may need to be deployed in a way to avoid or minimize adverse effects. [ABSTRACT FROM AUTHOR]

Vascular anomalies are a common cause of soft-tissue masses in children and often referred for ultrasonographic (USG) evaluation. They are broadly classified as vascular tumors (hemangiomas, hemangioendotheliomas, and angiosarcomas) or vascular malformations (venous malformations, lymphatic malformations, and arteriovenous malformations). Findings on USG and Doppler imaging can be used to categorize vascular anomalies into high- or low-flow lesions, which forms the basis for further workup, diagnosis, and management. On careful evaluation of various sonographic features, in conjunction with clinical findings, an accurate clinicoradiological diagnosis can be made in most cases. Further imaging with magnetic resonance (MR) imaging or computed tomography (CT) helps in delineation of lesion extent, whereas MR or CT angiography is useful to map the vascular supply of high-flow lesions. We have illustrated and discussed a step-by-step approach to diagnose vascular anomalies using ultrasound and Doppler imaging. [ABSTRACT FROM AUTHOR]

Background The precise understanding of the angioarchitecture of spinal vascular malformations (SVMs) is often difficult to reach with conventional digital subtraction angiography (DSA). The purpose of our study was to evaluate the potential of four-dimensional DSA (4D-DSA) (Siemens Healthcare) in the exploration of SVMs. Methods We retrospectively studied all patients who underwent spinal DSA, including 4D-DSA acquisition, from July 2018 to June 2019 at a single institution. All spinal DSA acquisitions were performed under general anesthesia. 4D-DSA acquisitions were acquired with the protocol '12 s DSA Dyna4D Neuro'. 12 mL of iodixanol 320 mg iodine/mL were injected via a 5 F catheter (1 mL/s during the 12 s 4D-DSA acquisition). Interrater (three independent reviewers) and intermodality agreements were assessed. results Nine consecutive patients (six men, three women, mean age 55.3±19.8 years) with 10 SVMs (spinal dural arteriovenous fistulas n=3, spinal epidural arteriovenous fistulas n=2, spinal pial arteriovenous fistulas n=2, and spinal arteriovenous malformations n=2; one patient had two synchronous pial fistulas) had spinal DSA, including 4D-DSA acquisition. Inter-rater agreement was good and moderate for the venous drainage pattern and the SVM subtype, respectively. In 9 of 10 cases, the quality of the acquisition was graded as good. Satisfactory concordance between 4D-DSA and the selective microcatheterization was observed in 90% of cases for the location of the shunt point. Conclusion 4D-DSA acquisition may be helpful for a better understanding of the angioarchitecture of SVMs. Larger series are warranted to confirm these preliminary results. [ABSTRACT FROM AUTHOR]

The co-occurrence of a brain arteriovenous malformation, Moyamoya Disease, and intracranial aneurysm is exceedingly rare. We report the third case of this disease constellation, and the first where the aneurysm arises from the Moyamoya collateral vessel. We review the relevant literature and discuss proposed pathophysiological mechanisms and clinical implications. [ABSTRACT FROM AUTHOR]

Radiology signs have long been described in ways that communicate the imagery around us to enhance our cognitive perception. Here, we describe the use and limitations of 10 such signs in neuroradiology, divided into three groups. The first are signs that are reliable for a specific diagnosis, such as the Medusa head sign indicating a developmental venous anomaly, or a racing car sign in agenesis of corpus callosum. The second group of signs helps us to diagnose rare conditions, such as the onion skin sign in Balo's concentric sclerosis. The third group is of unreliable signs that may lead clinicians astray. For example, the absence of a swallow-tail sign in Parkinson's disease or the presence of a hummingbird sign and Mickey Mouse sign in progressive supranuclear palsy. The appropriate use of these signs in clinical practice is essential. [ABSTRACT FROM AUTHOR]

Background: Little is known on the trends of aeromedical retrieval (AR) during social isolation. Aim: To compare the pre, lockdown, and post‐lockdown AR patient characteristics during a period of Coronavirus 2019 (COVID‐19) social isolation. Methods: An observational study with retrospective data collection, consisting of AR between 26 January and 23 June 2020. Results: There were 16 981 AR consisting of 1983 (11.7%) primary evacuations and 14 998 (88.3%) inter‐hospital transfers, with a population median age of 52 years (interquartile range 29.0–69.0), with 49.0% (n = 8283) of the cohort being male and 38.0% (n = 6399) being female. There were six confirmed and 230 suspected cases of COVID‐19, with the majority of cases (n = 134; 58.3%) in the social isolation period. As compared to pre‐restriction, the odds of retrieval for the restriction and post‐restriction period differed across time between the major diagnostic groups. This included, an increase in cardiovascular retrieval for both restriction and post‐restriction periods (odds ratio (OR) 1.12, 95% confidence interval (CI) 1.02–1.24 and OR 1.18 95%, CI 1.08–1.30 respectively), increases in neoplasm in the post restriction period (OR 1.31, 95% CI 1.04–1.64) and increases for congenital conditions in the restriction period (OR 2.56, 95% CI 1.39–4.71). Cardiovascular and congenital conditions had increased rates of priority 1 patients in the restriction and post restriction periods. There was a decrease in endocrine and metabolic disease retrievals in the restriction period (OR 0.72, 95% CI 0.53–0.98). There were lower odds during the post‐restriction period for retrievals of the respiratory system (OR 0.78, 95% CI 0.67–0.93), and disease of the skin (OR 0.78, 95% CI 0.6–1.0). Distribution between the 2019 and 2020 time periods differed (P < 0.05), with the lockdown period resulting in a significant reduction in activity. Conclusion: The lockdown period resulted in increased AR rates of circulatory and congenital conditions. [ABSTRACT FROM AUTHOR]

Objective To analyze the sensitivity and specificity of neuroelectrophysiological monitoring and warning criterion in the spinal cord cavernous malformations surgery. Methods A total of 64 patients with spinal cord cavernous malformation underwent surgical treatment were collected from November 2012 to March 2016. All patients underwent intraoperative monitoring of motor-evoked potential (MEP) and somatosensory - evoked potential (SEP). Multimodal monitoring combined MEP amplitude decreased ≥ 80% with SEP was performed to predict the postoperative neurological function defect of patients. McCormick grade as "gold standard" was used to calculate sensitivity, specificity, positive predictive value and negative predictive value. Results The sensitivity, specificity, positive predictive value and negative predictive value were 75% (15/20), 78.57% (33/42), 62.50% (15/24) and 86.84% (33/38), respectively. Conclusions Intraoperative MEP combined with SEP monitoring can effectively predict the occurrence of new neurological deficits after operation. MEP amplitude reduction ≥ 80% can be used as the operation warning criterion. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis of vascular ring can improve the time to intervention. Correlation of fetal diagnosis with postnatal imaging in the newborn period is needed for appropriate clinical management, surgical referral, and surgical approach if indicated. We present a case of a fetal diagnosis of double aortic arch with postnatal feed and swaddle cardiac MRI diagnosis of right aortic arch and aberrant left subclavian artery. [ABSTRACT FROM AUTHOR]

Objectives: Furcate cord insertion is a rare abnormality affecting approximately 0.1% of all pregnancies. Macroscopically, the umbilical vessels separate before reaching the placenta, lose their Wharton's jelly, and insert at the placenta centrally, eccentrically, or marginally. The aim of this retrospective study was to determine the prevalence of furcate cord insertion more accurately, the pathological characteristics, and clinical outcomes. Methods: We conducted a retrospective study of 132 cases of furcate insertion of the umbilical cord using the pathological database of the Charité University Hospital Berlin, Germany, between 1993 and 2016. This included 99 cases, including one termination of pregnancy within our institution and 33 cases from external hospitals. An analysis of the pathological features of the 132 cases and the perinatal outcome of the 98 cases within our institution were performed. Results: Furcate cord insertion occurred in 0.16% pregnancies. Of the 132 cases, seven cases of intrauterine fetal deaths were observed. Three of those could be linked to the furcate cord insertion. In two of those cases, single umbilical vessel rupture was identified as the cause of fetal death. Conclusions: In most cases of furcate cord insertion, the outcome is good; however, intrauterine fetal death occurs in approximately 1.02% of cases. [ABSTRACT FROM AUTHOR]

Aim: To review our experience with the prenatal diagnosis of congenital portosystemic shunt (CPSS). Methods: This is a retrospective study of CPSS cases examined at an ultrasonographic tertiary referral center from 2013 to 2019. The anatomical origin and drainage of the shunt were assessed. Feto‐maternal clinical characteristics and long‐term outcomes were investigated via medical files and telephone interviews with the mothers. Results: Eleven cases were reviewed. Based on the anatomical origins, before or after portal vein division, cases were classified into extrahepatic portosystemic shunt (EHPSS, n = 3, 27.3%) and intrahepatic portosystemic shunt (IHPSS, n = 8, 72.7%). Additional abnormalities were also observed in the EHPSS (n = 2, 66.7%) and IHPSS (n = 3, 37.5%) groups. Intrauterine growth restriction was the most common abnormality (n = 4, 80%). The median age of the pregnant women was 31.9 years (range 26 ~ 43 years). Most cases (n = 8, 72.7%) were diagnosed in the third trimester, and the median gestational age was 31+5 weeks (range 24 ~ 36+6 weeks). Three cases underwent karyotype examinations, and one had trisomy 13. The median time after birth was 2 years (range 0.7 ~ 5.7 years). The overall postnatal live‐birth rate was 60% (6/10), not including one case with no data on pregnancy outcome. The mothers of the six live births indicated that their children were in excellent health. Conclusion: This study indicates that prenatal CPSS diagnosis is feasible, especially in the third trimester. IHPSS is more common than EHPSS. Complicated cases most often occur with EHPSS. Intrauterine growth restriction is the most common concomitant abnormality. The prognosis of most cases is good. [ABSTRACT FROM AUTHOR]

Vascular malformations are inborn errors of vascular morphogenesis and consist of localized networks of abnormal blood and/or lymphatic vessels with weak endothelial cell proliferation. They have historically been managed by surgery and sclerotherapy. Extensive insight into the genetic origin and molecular mechanism of development has been accumulated over the last 20 years. Since the discovery of the first somatic mutations in a vascular anomaly 10 years ago, it is now recognized that they are perhaps all caused by inherited or somatic mutations in genes that hyperactivate two major intracellular signaling pathways: the RAS/MAPK/ERK and/or the phosphatidylinositol 3 kinase (PIK3)/protein kinase B/mammalian target of rapamycin (mTOR) pathway. Several targeted molecular inhibitors of these pathways have been developed, mostly for the treatment of cancers that harbor mutations in the same pathways. The mTOR inhibitor sirolimus is the most studied compound for the treatment of venous, lymphatic, and complex malformations. Disease responses of vascular malformations to sirolimus have now been reported in several studies in terms of clinical changes, quality of life, functional and radiological outcomes, and safety. Other targeted treatment strategies, such as the PIK3CA inhibitor alpelisib for PIK3CA-mutated vascular malformations, are also emerging. Repurposing of cancer drugs has become a major focus in this rapidly evolving field. [ABSTRACT FROM AUTHOR]

Objectives: To examine three different methods for evaluating the effect of percutaneous sclerotherapy on limb venous malformations in a series of patients with a relatively long follow-up. Method: The study was a retrospective study. Results: Thirty-eight patients treated with percutaneous sclerotherapy underwent sclerotherapy, with a median number of sessions of 4 (range, 1–10). They were followed up for 1–60 months (average 12.5 months). The kappa between clinical manifestations and Doppler ultrasound was 0.684 (P < 0.001). The kappa between clinical manifestations and magnetic resonance imaging was 0.217 (P = 0.006). The kappa between Doppler ultrasound and magnetic resonance imaging was 0.323 (P < 0.001). The rate of grade IV patients evaluated by clinical manifestations was significantly higher than that by Doppler ultrasound and magnetic resonance imaging. Conclusions: Magnetic resonance imaging is the gold standard for VM imaging. Its consistency with clinical examination and Doppler ultrasound is poor, and Doppler ultrasound and clinical examination could be more appropriate for follow-up imaging after sclerotherapy. [ABSTRACT FROM AUTHOR]

Aim: Sodium tetradecyl sulfate (STS) sclerotherapy in pediatric patients is usually undertaken under sedation inside digital subtraction angiography (DSA) suite. These patients are day-care patients and need adequate sedation for small duration. We performed this study to compare propofol and dexmedetomidine as sedative agents in these patients. Materials and Methods: Seventy American Society of Anesthesiologists (ASA) physical status I patients scheduled to undergo sclerotherapy for low-flow venous malformations under sedation were randomized to be administered either dexmedetomidine (Group D) or propofol (Group P). In Group D, initially 2 µg/kg of dexmedetomidine was administered over 10min (or till attainment of a Ramsay sedation score [RSS] of 5), followed by an infusion at the rate of 0.3 µg/kg/h. In Group P, propofol 1mg/kg bolus followed by an infusion at 100 µg/kg/min was administered, titrated to an RSS of 5. We measured intraoperative heart rate, blood pressure, respiratory rate, duration of procedure, and incidence of arterial desaturation, bradycardia, and respiratory depression in the two groups. Results: All the patients in both groups completed the procedure. The mean anesthesia time was significantly longer in Group D. Intraoperative heart rates remained comparable in the two groups, whereas systolic and diastolic BP were significantly higher in Group D throughout the procedure. No patient in Group D experienced arterial desaturation, whereas five patients in Group P reported a SpO2 of <90%. Conclusion: Both propofol and dexmedetomidine can be used for administering sedation in pediatric patients undergoing sclerotherapy for superficial venous malformations in DSA suite. Although propofol provides a rapid onset and reduced duration of action, dexmedetomidine provides reduced episodes of arterial desaturation and respiratory depression. [ABSTRACT FROM AUTHOR]

'Perifoveal Exudative Vascular Anomalous Complex' (PEVAC) is a perifoveal, unilateral, isolated, perifoveal aneurysm, in otherwise healthy patients. Here, we report a case of PEVAC in a highly myopic eye of a 86-year-old woman affected by a visual decline in the right eye (best-corrected visual acuity of 20/100). She had no other relevant past conditions and/or ocular impairment. Fundus examination in the right eye showed myopic chorioretinal degeneration with a concomitant PEVAC. Structural optical coherence tomography (OCT) showed a round lesion with a hyperreflective wall associated with intraretinal cystic spaces. OCT-angiography nicely disclosed an isolated large aneurysmal retinal dilation featuring the PEVAC with detectable flow in superficial capillary plexus, deep capillary plexus, and avascular slab. This case highlights the importance of discerning between different vascular disorders of the macula, in order to be able to offer the right treatment and/or follow-up to the patient. [ABSTRACT FROM AUTHOR]

Pulse laser treatment is useful for aesthetic improvement in children with capillary vascular malformation and residual superficial haemangiomas. However, pulse laser treatment is painful, and repeated procedures are usually required to achieve a satisfactory clinical result. Evidence shows that analgesia in children undergoing pulse laser treatment may vary from general anaesthesia to no treatment at all. This report describes our institutional experience with deep sedation in children with capillary vascular malformation, undergoing laser pulse treatment. [ABSTRACT FROM AUTHOR]

Objectives: To report the outcomes of surgical treatment of calf intramuscular venous malformations (IMVMs) on pain, functional limitation, and quality of life. Methods: We retrospectively reviewed 57 consecutive patients who had surgery for IMVM of the posterior compartment of the leg between 2010 and 2015. Treatments were all done at a single institution. Results: Patients presented with pain (52), muscle contracture (14), or pulmonary embolism (4). Muscle involvement included the soleus muscle (n = 28, 49%), the gastrocnemius muscle (n = 25, 43%), and deep muscles (n = 4, 7%). Complete excision was possible in 52 patients (91%) and partial excision in 5 (9%). Thirty-five of 46 patients who had an MRI follow-up at six months had no residual venous malformation. At the final follow-up (mean 39 months), 32 of 40 patients seen had no residual pain and 37 had no residual functional impairment. Conclusion: In cases where IMVM is located in one muscle in the leg, we demonstrated that surgery yielded improvement in pain, function, and quality of life. [ABSTRACT FROM AUTHOR]

Context. Craniofacial anomalies (CFA) are a major cause of infant mortality and childhood morbidity. They may be simple or multiple and vary in their clinical importance. Objectives. To estimate the prevalence of craniofacial anomalies among Iraqi people and its association with other congenital malformations. Methods. A hospital-based cohort study. It was conducted in Iraq, Fallujah city from Jan 2019-April 2019. The pediatric age group below 16 years attending the consultation clinic. Results. The prevalence rate of craniofacial anomalies was 2%. There were 43 (54%) males and 37 (46%) females. A 55 cases (69%) out of total 80 cases have an association with other internal congenital malformations, and 25 cases (31%) have no association. Those associated internal malformations were categorized according to their types into congenital heart disease 33(60%), Renal diseases 9 (16%), CNS anomalies 8(15%), and GIT anomalies 5(9%). Conclusions. Craniofacial anomalies showed a relatively higher prevalence rate in comparison to other studies worldwide. It was found that the majority of craniofacial anomalies might be associated with other congenital systemic malformations. Furthermore, the necessary actions to identify the frequency and risk factors associated with craniofacial anomalies in the Iraqi population are emphasized to put a better strategy to establish future preventive programs and treatment. [ABSTRACT FROM AUTHOR]

Background: Cardiovascular anomalies are more common in monochorionic twins, especially with twin-twin transfusion, compared to other twin types and to singletons. Because previous studies are based on fetal and neonatal echocardiography, more information is needed to study prevalence of cardiac anomalies in twin miscarriages, stillbirths, and children after the immediate neonatal period. Methods: With specific attention to cardiac anomalies, we reviewed the medical records of 335 selected liveborn twin pairs from the Marshfield Clinic Twin Cohort (enriched for twin-twin transfusion) and all twins (175 pairs) identified in the Wisconsin Stillbirth Service Program cohort of late miscarriages and stillbirths. Results: Structural cardiac defects occurred in 12% of liveborn monochorionic twin infants and 7.5% of stillborn infants with twin-twin transfusion compared to only 2% of liveborn dizygotic twins and no stillborn dizygotic infants. The most common cardiac lesion in liveborn twins was ventricular septal defect, which was usually isolated and discordant, preferentially affecting the smaller twin in monochorionic pairs. Among stillborn and miscarried monochorionic twins, the most common cardiac lesion was acardia. Conclusions: Monochorionic twins, particularly those with TTT, are at increased risk for a spectrum of structural cardiac malformations which we suggest may be related to asymmetry of the inner cell mass resulting in a smaller poorly perfused twin. In severe cases, limited cardiac and circulatory development in the affected twin leads to acardia. In less severe cases, the smaller infant has deficient septal growth that sometimes results in ventricular septal defect. [ABSTRACT FROM AUTHOR]

Congenital portosystemic shunt (CPSS) is a rare disorder characterized by a diversion of Porto-mesenteric blood into systemic veins. Type I is an end to side fistula between the portal vein and the inferior vena cava. Type II is a side to side fistula between the main portal vein or its branches and mesenteric, splenic, gastric, and systemic veins. Clinical presentation of these patients varies. Treatment and management are guided by the type of malformation and clinical presentation. Herein, we present a case of CPSS Type IIb with neurological symptoms, treated with endovascular occlusion with 6-year follow-up without remission. [ABSTRACT FROM AUTHOR]

Purpose: Pial arteriovenous fistulae (PAVF) are rare intracranial vascular malformations, predominantly seen in children and distinct from arteriovenous malformations and dural arteriovenous fistulae. PAVF often leads to high morbidity and mortality. The aim of our study was to describe the clinical features and endovascular management of PAVF at various intracranial locations; to analyze the use of liquid embolic agents and coils alone or in combination in the treatment of PAVF and to analyze the outcome of embolization. Materials and Methods: Retrospective review of diagnostic angiography and neurointerventional database of our institution identified a cohort of 15 patients with non-galenic PAVF from 2008 to 2014 out of 6750 patients. Fourteen patients were treated endovascularly with coils and liquid embolic materials in combination or alone. Patients were followed up for evaluation of prognosis. Results: Age of the patients ranged from 3 to 37 years. Most patients were male and most common presentation was headache followed by seizure. Most common location of fistula was frontal lobe. The most common type was single artery single hole fistula with venous varix. Satisfactory obliteration was seen in all cases. One patient developed intraparenchymal hematoma on the first post procedural day and outcome was poor. Conclusions: PAVF are rare intracranial vascular malformations which can effectively be managed endovascularly with liquid embolic, coils alone, or in combination. Complete occlusion of the fistula can be achieved in most cases in a single sitting with a reasonable morbidity related to the procedure, compared with the natural history of this disease. [ABSTRACT FROM AUTHOR]

Objectives: Intermuscular venous malformations are common vascular malformation, do not have typical symptoms, and are difficult to diagnose. This article is a retrospective analysis of the diagnostic and therapeutic measures of intermuscular venous malformations. Methods: From January 2013 to June 2018, 21 patients were included in this study. The clinical presentations, managements, and follow-up results were retrospectively analyzed. The indications and potential risks of different treatments were summarized. Results: The complaints of patients with intermuscular venous malformations included local pain, swelling, discomfort, or aggravation after activity. Ultrasound, phlebography, magnetic resonance imaging, percutaneous sinus angiography, and three-dimensional computed tomography imaging were performed. The patients received surgical excision, sclerotherapy, or the combinational therapy of intralesional copper wires retention and ethanol injection and were followed for six months to five years. All patients' symptoms were relieved largely. The lesions evaluated by magnetic resonance imaging decreased apparently or disappeared. Conclusions: Imaging examinations are necessary in the diagnosis of intermuscular venous malformations and can guide the choice of treatment. Individualized treatment for intermuscular venous malformations should be made to achieve good effect and avoid adverse effects. [ABSTRACT FROM AUTHOR]

There are not many error proof clinical scores to assess the native dialysis access. CAVeA2T2 score is a recent tool in use. Objective of the study is to assess the clinical utility of CAVeA2T2 scoring system in predicting the survival rate of brachiocephalic arteriovenous fistula (BC-AVF). Methods: All consecutive patients fulfilling the inclusion criteria for BC-AVF from January 2016 to January 2018 were included. According to their CAVeA2T2 score they were divided into two groups (Group A: < 2 and Group B: ≥2). Cumulative primary and secondary patency survival of BC-AVF for both groups were measured. Results: A total of 112 BC-AVFs were analysed. Mean age was 42±SD 14 years (M: F =5:1). Mean CAVeA2T2 score was 1.45±1.8. In terms of primary patency, there was no statistically significant difference between two groups (p=0.074, p = 0.229 and p=0.357 at 6 weeks, 6 months and 12 months respectively). However, the difference was significant in terms of secondary patency (p=0.002, p=0.036 and p=0.032 at 6 weeks, 6 months and 12 months respectively). On comparing the cumulative survival between two groups; a significantly low primary patency rate survival (Log Rank x2 = 12.9, p-value = 0.001) and secondary patency rate survival (Log Rank x2 = 7.6, p-value = 0.001) of BC-AVF was found in Group B. Conclusion: We found CAVeA2T2 score an easily applicable and useful tool to assess the patency and survival of BC-AVF. Patients have a poor patency and significantly low survival rate when their CAVeA2T2 score was ≥2. [ABSTRACT FROM AUTHOR]

Purpose: To retrospectively assess the technical feasibility, safety and clinical efficacy of percutaneous MR-guided cryoablation of low-flow vascular malformations (LFVM).Materials and Methods: Between July 2013 and May 2019, 9 consecutive patients (5 male; 4 female; mean age 39.4 ± 15.3 years, range 15-68) underwent MR-guided cryoablation of LFVM. Patients were treated due to pain in all cases. Procedural data, complications and clinical results were analyzed.Results: Technical success defined as complete coverage of the LFVM by the iceball without involvement of nearby non-target thermal-sensitive structures was achieved in 9/9 (100%) cases. Mean procedure time was 122 ± 20 min (range 90-150); 2-6 cryoprobes (mean 3.7 ± 1.2) and 2-4 freezing cycles (mean freezing time 19.8 ± 11.8 min; range 4-40) were applied. No complications were noted. Mean time from the first treatment to the last follow-up was 548 days (range 30-1776). Persistent/recurring pain was noted in 3/9 cases (33%) 30, 133 and 639 days after cryoablation, respectively, and was related in all cases to MR-confirmed local residual/recurring disease. A second cryoablation treatment was performed in these 3 cases with complete pain control at the last available follow-up (153, 25, 91 days, respectively). In the whole population, at mean 161 days (range 25-413) after the last treatment, on the numerical pain rate scale, pain significantly dropped from mean 6.4 ± 2.1 (range 3-9/10) before CA to mean 0.3 ± 0.9 (range 0-3/10) after (p = 0.009).Conclusions: Percutaneous MR-guided cryoablation is technically feasible, safe and effective for the treatment of symptomatic LFVM.Level Of Evidence: Level 3b, retrospective cohort study. [ABSTRACT FROM AUTHOR]

Objective The aim of this observational study was to investigate the evolution of scleroderma microangiopathy throughout different nailfold videocapillaroscopy (NVC) patterns ('early', 'active', 'late') as well as the prevalence of organ involvement in SSc patients during a 12-year follow-up. Methods Thirty-four SSc patients showing at baseline (first capillaroscopic analysis) the 'early' NVC pattern of microangiopathy were enrolled and followed for 12 years (s. d. 2). Complete NVC analysis and clinical and serological findings were collected. Patients were in a standard therapeutic care setting. Statistical analysis was carried out by non-parametric tests. Results After a 12-year follow-up, the 'early' NVC pattern changed from baseline in 76% of the patients. The NVC pattern was found to be 'active' in 9 patients (26%), 'late' in 13 (38%) and characterized by non-specific capillary abnormalities in 4 (12%). In the subgroup whose microangiopathy progressed from the 'early' to the 'late' NVC pattern, the median time of progression from the 'early' to the 'active' pattern was significantly shorter (11 months) when compared with patients who progressed from the 'early' to the 'active' NVC pattern (55 months) (P = 0.002). The median time of progression between NVC patterns was significantly shorter in SSc patients showing either a nucleolar ANA pattern or Scl70 autoantibodies (P = 0.048). Organ involvement was progressively greater in SSc patients with 'early', 'active' and 'late' NVC patterns, respectively. Conclusions This longitudinal study confirms over a 12-year follow-up the evolution of specific NVC patterns associated with the progressive severity of organ involvement in SSc patients in a standard clinical care setting. [ABSTRACT FROM AUTHOR]

Background: Previous literature has reported on the incidence of short-term complications following resection of cervical lymphatic malformations (LMs) in children, however no research has yet investigated the long-term symptomatic course in these patients. This study aims to provide families and providers with an understanding of expectations for long-term symptom control, specifically in association with subsequent upper respiratory infections (URIs). Methods: A retrospective chart review produced a case series of patients who underwent resection of cervical LM at a pediatric tertiary care center between 2007 and 2016. Demographic data, disease characteristics, operative details, and postoperative care were evaluated. Telephone surveys were conducted to ascertain the course of postoperative symptoms at the surgical site. Results: Forty-three patients responded to the telephone survey. Thirty-seven (86.0%) had at least one postoperative surgical site symptom during subsequent URIs, with 28 (65.1%) reporting redness, 34 (79.1%) reporting swelling, and 18 (41.9%) reporting pain. Patients who experienced any of these symptoms universally indicated that they developed soon after the surgical resection, and over half reported that they improved over time. Postoperative seroma was associated with swelling during subsequent URIs (p = 0.04). Patients age 7 or were greater were more likely than those under 7 to report pain with URIs (p = 0.006). All 8 patients with drain placement for at least 2 days reported swelling during subsequent URIs. The incidence of the queried symptoms did not vary significantly based on sex, stage, histology, surgical subsite, or presence of residual disease. Conclusion: While preoperative symptoms associated with cervical LMs are also frequently encountered postoperatively, particularly in some patient subgroups, improvement over time should be expected. Level of evidence: 4 [ABSTRACT FROM AUTHOR]

Cerebrofacial venous metameric syndrome (CVMS) is a complex craniofacial vascular malformation disorder in which patients have a constellation of venous vascular malformations affecting soft tissues, bone, dura, and neural structures including the eye and brain. It is hypothesized that a somatic mutation responsible for the venous abnormalities occurred prior to migration of the neural crest cells, and because of this, facial, osseous, and cerebral involvement typically follows a segmental or "metameric" distribution. The most commonly recognized form of CVMS is Sturge-Weber syndrome. However, a wide spectrum of CVMS phenotypical presentations exist with various metameric distributions of slow-flow vascular lesions including facial venous vascular malformations, developmental venous anomalies, venous angiomas, cavernous malformations (cavernomas), dural sinus malformations, and maybe even vascular tumors such as cavernous hemangiomas. Awareness of the various manifestations as described herewith is important for treatment and screening purposes. [ABSTRACT FROM AUTHOR]

Background: Soft tissue vascular malformations are not uncommonly encountered in clinical practice and are often mistaken for other pathologies. Vascular anomalies are divided into vascular tumors and malformations. Vascular malformations progressively increase in size with increasing age and are classified into low-flow (venous, lymphatic, veno-lymphatic, capillary and capillary venous) and high-flow malformations (arteriovenous malformations (AVM) and arteriovenous fistula (AVF)) depending on the presence or absence of arterial flow. Aim: Aim of this study is to evaluate the Magnetic resonance imaging (MRI) features of the soft tissue vascular malformations and to classify the lesions depending on flow pattern. Materials and Methods: A total of 52 patients of soft tissue vascular malformations were included in this study over a period of 3 years. All patients underwent detailed clinical examination and dynamic post contrast MRI evaluation. Doppler and ultrasound were done as an adjunct. Results: There were 31 females and 21 male patients with age ranging from 9 to 34 years. In total 33 venous, 11 lymphatic, 8 veno-lymphatic malformations were seen. No case of high-flow malformation was seen. Majority of the lesions involved the head and neck region and the extremities. Fat saturated T2WI, STIR, and 3D dynamic post contrast sequences were found to be the most useful MRI sequences. Conclusion: MRI is the modality of choice for evaluating the soft tissue vascular malformations. It depicts the extent of the lesion, classifies the lesions into low or high flow and helps in treatment planning. [ABSTRACT FROM AUTHOR]

Objective: To determine the key sonographic features for the diagnosis of sirenomelia in the first trimester of pregnancy.Methods: Cases of sirenomelia from several prenatal diagnosis centers were retrospectively identified and reviewed. The diagnosis was established through the detection of fused lower limbs. Additional sonographic findings were also noted.Results: A total of 12 cases were collected. The most striking sonographic finding was the detection of malformed lower limbs, which appeared to be fused and in an atypical position. Nuchal translucency thickness was mildly increased in three cases (25%). An abdominal cyst, representing the dilated blind-ending bowel, was noted in seven cases (58%). Color flow imaging detected a single umbilical artery in six cases (50%) and the associated intra-abdominal vascular anomalies in three cases (25%). No cases of aneuploidy were detected. The pregnancy was terminated in nine cases (75%) and intrauterine demise occurred in the remaining three cases (25%).Conclusions: The sonographic detection of abnormal lower limbs or an intra-abdominal cyst located laterally during the first-trimester scan may be warning signs of sirenomelia. This should prompt a detailed examination of the fetal lower body and intra-abdominal anatomy, including the main abdominal vessels, in order to look for additional confirmatory findings. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the ultrasonographic features and pregnancy outcomes in women with ductus venosus-systemic shunt and systematic review of the literature.Method: A computerized search was conducted to identify cases of ductus venosus-systemic shunt between September 2016 and January 2018. Six patients were identified. Antenatal records and neonatal outcomes are presented. A systematic Embase, SCOPUS, and Medline search of published literature from 1991 to 2018 was performed using the terms "ductus venosus," "agenesis," "absence," "absent," "missing," "aberrant," and "variant."Results: Additional structural anomaly such as esophageal atresia with tracheoesophageal fistula was observed in one case. In other case, termination of pregnancy was performed due to Down syndrome. Other two of the six fetuses were monochorionic multiple pregnancies. In our review of the literature, additional anomalies were observed in 9 (42%) of the 21 cases.Conclusion: Our observation suggests that ductus venosus-systemic shunt can be associated with Down syndrome. Detailed examination should be performed to rule out additional abnormalities. Prognosis is good if the pathology is isolated. [ABSTRACT FROM AUTHOR]

The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence‐based medicine (EBM) techniques and aimed at improvement of the outcomes. Clinical questions (CQs) were decided based on the important clinical issues. For document retrieval, key words for literature searches were set for each CQ and literature published from 1980 to the end of September 2014 was searched in Pubmed, Cochrane Library, and Japana Centra Revuo Medicina (JCRM). The strengths of evidence and recommendations acquired by systematic reviews were determined following the Medical Information Network Distribution System (MINDS) technique. A total of 33 CQs were used to compile recommendations and the subjects included efficacy of resection, sclerotherapy/embolization, drug therapy, laser therapy, radiotherapy, and other conservative treatment, differences in appropriate treatment due to the location of lesions and among symptoms, appropriate timing of treatment and tests, and pathological diagnosis deciding the diagnosis. Thus, the Japanese Clinical Practice Guidelines for Vascular Anomalies 2017 have been prepared as the evidence‐based guidelines for the management of vascular anomalies. [ABSTRACT FROM AUTHOR]

Background: To report the results of multimodal imaging in a case of a congenital retinal macrovessel associated with a retinal cavernous hemangioma.Case Presentation: A 52-year-old female patient presented with progressive vision loss in the right eye. BCVA was 8/20 in the right eye and 18/20 in the left eye. Fundus examination of the right eye showed an aberrant retinal macrovessel arising from the inferior temporal major vein. It crossed the foveal area and overstepped to the superior retina. A "brunch of grapes" shaped retinal lesions arised from the macrovessel. Fluorescein angiography showed saccular lesions that filled slowly during the venous phase and became brightly hyperfluorescent saccular caps. SS-OCT of the right eye revealed a highly back-scattering hyper-reflective vessel across the fovea with shadow effect and adhesions between the vitreous and the aberrant macrovessel. It also revealed hypo reflective saccules with hyperreflective borders located in the inner retina corresponding to the cavernous retinal hemangioma. Retinal pigment epithelium undulations and vascular dilations at the level of Haller's layer were observed in both eyes. Indocyanine green angiography revealed chroidal vascular dilatations in both eyes in the late phase. OCT-A showed the aberrant vessel emerging from the inferior temporal vein and splitting the foveal avascular zone horizontally. RCH appeared as small heterogeneous saccular flow areas associated with focal capillary hypo perfusion areas. Asymmetry and distorsion of the foveal avascular zone were also noticed. A diagnosis of retinal macrovessel associated with a retinal cavernous hemangioma was made.Conclusions: Congenital retinal macrovessels and retinal cavernous hemangioma are benign lesions. Their association is rare. Abnormal vascular development is likely to be responsible for their association. Swept source OCT and OCT angiography may be of a great contribution to better evaluate these retinal vascular disorders. [ABSTRACT FROM AUTHOR]

Purpose: The ophthalmic artery (OA) has one of the most complex anatomy and the most fascinating embryological development. Methods: The complexity of the embryologic development of the OA resides in the implication of three different embryological systems: the carotid system, the stapedial system, and the ventral pharyngeal system. Results: This explains very well the numerous variations in origin of the OA and the importance of vascular anastomoses developed with branches of the external carotid artery and with the middle meningeal artery. Conclusion: In this review, authors propose a comprehensive description of different hypotheses on the embryologic development of the OA and, in a second part, explain all anatomical variations and clinical implications of this artery. [ABSTRACT FROM AUTHOR]

Introduction:  Capillary malformations (CMs) can be sporadic or syndromic, in association with other underlying venous malformation (VM) or lymphatic malformation (LM). The objective of this study is to describe the clinical patterns in the neonate that allow us to differentiate sporadic CMs from those associated with other vascular malformations.Materials and Methods:  A case-control study was performed in neonates with CM located in the trunk, followed at our institution between 2008 and 2018. The patients were divided into two groups: group A (cases: CM associated with VM or LM) and group B (controls: sporadic CM without associated malformations). Demographic and clinical variables collected in the clinical history were evaluated (color, location, multifocality, bilaterality, position regarding the vascular axis, and involvement of the midline).Results:  Thirty-eight patients were included (18 cases and 20 controls) without differences in gender and age. In group A, the totality of patients presented CM with uniform color and lateral location (p < 0.001). In this group, bilateral and multifocal involvements were lower than in group B, without significant differences between both groups. The distribution of CMs in group A was always parallel to the vascular axis and the midline was always respected, without observing these characteristics in the group B (p < 0.001).Conclusion:  The presence of a CM in the trunk of a neonate with uniform color, lateral location, parallel position to the vascular axis, and absence of involvement of the midline should make us suspect other underlying vascular malformations, which should be studied with complementary tests. [ABSTRACT FROM AUTHOR]

Objective: Vascular anomalies are a diverse group of lesions, ranging from simple to complex, disfiguring anomalies. Our objective was to diagnose and provide comprehensive treatment to patients presenting with vascular anomalies, using a multi-disciplinary approach involving dermatologists, plastic surgeons, radiologists and pediatric surgeons. Methods: Patients presenting with vascular anomalies to The Indus Hospital, Karachi, from January 2017 to March 2019 were enrolled, using a pre-defined questionnaire. Assessment, diagnostic work up, management and clinical and photographic follow up was maintained to monitor outcomes. Results: One hundred eighty seven patients with a mean age of 4.6 years, (females 62%) were enrolled. Diagnoses included vascular tumors (n=89, 47.6%), lymphatic malformations (n=38, 20.3%), capillary malformations (n=19, 10%), venous malformations (n=16, 8.5%), arterio-venous malformations (n=14, 7.5%) and mixed anomalies (n=11, 5.9%). Treatment modalities, in isolation or combination, included oral propranolol, topical timolol, pulsed dye laser and intra-lesional sclerotherapy. Mean follow up was in 7.1 months, with 27 patients achieving treatment completion. 26 children were lost to follow-up. Conclusions: Vascular anomalies have mostly been managed successfully at VAC using single or multimodal treatment. Increasingly complex anomalies can be handled using a multi-disciplinary approach. Establishment of VAC has facilitated many patients who were earlier considered as diagnostic and therapeutic challenges. [ABSTRACT FROM AUTHOR]

The persistence of the fifth aortic arch (PFAA) in postnatal life is an extremely rare and controversial cardiovascular malformation. PFAA is defined as an extra-pericardial vessel arising from the ascending aorta proximal to the origin of the brachiocephalic arteries, terminating either in the dorsal aorta or in the pulmonary arteries through the persistently patent arterial duct. An isolated PFAA with systemic-to-pulmonary connection best fits this definition, while the vast majority of cases reported as PFAA may have alternative embryological explanations. We present a unique case of a 5-week-old patient with an isolated PFAA with systemic-to-pulmonary connection, who presented with congestive heart failure. A first differential diagnosis was made with distal aortopulmonary window and an atypical patent arterial duct. A careful analysis of the case and a systematic review of the literature made us conclude for an isolated PFAA, which is one of the only five cases ever reported. [ABSTRACT FROM AUTHOR]