Coronary artery injury following catheter ablation for cardiac arrhythmias is very rare. We present a case of left circumflex (LCx) coronary artery dissection causing inferoposterior ST‐elevation ...myocardial infarction following radiofrequency (RF) ablation for atrial fibrillation (AF) in a 39‐year‐old male with no cardiovascular risk factors. This was confirmed on coronary angiography and intracoronary vascular ultrasound (IVUS). The likely etiology is thermal injury during RF ablation for AF, due to the close proximity of the left atrial appendage and left pulmonary veins to the LCx. He was successfully treated with primary percutaneous coronary intervention with good outcome. This is, to our knowledge, the first reported case of proven acute coronary dissection secondary to RF ablation for AF reported in the literature, and highlights the importance of considering this as a mechanism for coronary occlusion in these patients.
Objective To develop an algorithm that allows advanced identification of infants requiring treatment for retinopathy of prematurity (ROP). Study design A retrospective observational study was ...performed at 2 tertiary neonatal units serving a multiethnic population in the UK, using data on 929 infants eligible for ROP screening. The relationships between study variables and the risk of developing ROP requiring treatment were analyzed using multiple logistic regression. Results After applying exclusion criteria, data from 589 infants were analyzed; of these, 57 required laser treatment. The proportion of treated infants was 5.9% of those born to black mothers, 9.39% of those born to white mothers, and 12.8% of those born to Asian mothers ( P = .047). Multiple logistic regression showed that gestational age, birth weight, maternal ethnicity, and early weight gain were predictors for the development of ROP requiring treatment, with maternal ethnicity having greater predictive power compared with early weight gain. We developed an algorithm for predicting the development of ROP requiring treatment with sensitivity, specificity, and positive and negative predictive values of 100%, 65.7%, 23.8%, and 100%, respectively. Conclusion Gestational age, birth weight, early weight gain, and maternal ethnicity are important predictors for the development of ROP requiring treatment. In a multiethnic population, an algorithm to predict development of ROP requiring treatment should include maternal ethnicity. If confirmed through prospective studies, this algorithm could reduce the number of opthalmologic examinations performed for ROP screening.
Management of arrhythmias in pulmonary hypertension Reddy, S. Ashwin; Nethercott, Sarah L.; Khialani, Bharat V. ...
Journal of interventional cardiac electrophysiology,
11/2021, Letnik:
62, Številka:
2
Journal Article
Recenzirano
Background
Pulmonary hypertension (PH) is a potentially devastating clinical condition with a poor long-term prognosis. Cardiac arrhythmias are frequent in PH, and pulmonary hypertensives are ...particularly susceptible to the adverse haemodynamic effects of heart rhythm disorders. However, arrhythmia management in PH patients can be more challenging than in the general population due to the particular physiological idiosyncrasies associated with the condition. Here, we summarise and appraise the data pertaining to multimodality treatment of cardiac arrhythmias in PH to help refine the management strategy for this vulnerable patient group.
Results
The majority of our understanding of the safety and effectiveness of different arrhythmia treatments in PH is based on observational and retrospective data. Rhythm control is the overall goal, and for atrial and ventricular tachyarrhythmias, referral for catheter ablation, ideally using electroanatomical mapping technology in specialist centres, is the preferable means of achieving this. Contradictory viewpoints are expounded regarding the safety of beta blocker use in PH, though in three small prospective clinical trials and at least six animal models they appear to be well-tolerated. Nevertheless, amiodarone remains the preferred pharmacological treatment. Direct current cardioversion can be carried out effectively to terminate tachyarrhythmias in both the emergency and elective setting, though mechanistic studies demonstrate a higher recurrence rate in PH patients. Individual reports and series suggest that device implantation may be technically challenging and associated with a higher complication rate due to anatomical distortion and chamber enlargement. Modulation of sympathetic input to the heart appears to reduce arrhythmia vulnerability in canine models of PH, and its clinical application in humans is a worthwhile area of further study.
Conclusion
Prompt restoration of sinus rhythm improves outcomes in PH, and at present, the most reliable and safest strategy for long-term rhythm control is amiodarone and, where possible, ablation. Reinforcement of the evidence base with randomised prospective trials is necessary. This would be particularly beneficial to clarify the role of atrial fibrillation ablation and the safety and efficacy of beta-blockers. In addition, a more comprehensive assessment of the vulnerability of PH patients to potentially fatal brady- and ventricular tachyarrhythmias may help guide recommendations for provision of primary prevention device therapy.
To describe the genotype-phenotype relationship of a cohort of consecutive patients with isolated ectopia lentis (EL) secondary to ADAMTSL4 and FBN1 mutations.
Patients underwent detailed ocular, ...cardiovascular, and skeletal examination. This was correlated with Sanger sequencing of ADAMTSL4 and FBN1 genes.
Seventeen patients were examined, including one with ectopia lentis et pupillae. Echocardiography and skeletal examination revealed no sign of systemic disorders associated with EL, in particular Marfan syndrome (MFS). Nine patients (52.9%) were found to have mutations in ADAMTSL4, including four novel nonsense mutations. Four patients (25%) were found to have novel FBN1 mutations, not previously reported as causing classical Marfan syndrome. One additional patient was found to have an FBN1 mutation previously reported in classical MFS. Four patients (25%) were found to have no mutations in either gene. Median age of diagnosis of EL was 35 years in patients with FBN1 mutations and 2 years in patients with ADAMTSL4 mutations (P < 0.01). Mean axial length was 22.74 mm (95% confidence interval CI: 21.3-24.2) (FBN1) and 27.54 mm (95% CI: 24.2-30.9) (ADAMTSL4) (P < 0.01). Other ophthalmic features, including corneal thickness and power, foveal thickness, visual acuity, and direction of lens displacement, were similar for both groups.
ADAMTSL4 is the most important known causative gene in isolated EL. Mutations in ADAMTSL4 appear to cause earlier manifestation of EL and are associated with increased axial length as compared to FBN1. We suggest that ADAMTSL4 be screened in all patients with isolated EL and that physicians be vigilant for the more severe ocular phenotype associated with mutations in this gene.
ObjectivesTo explore current delays in diagnosis of retinoblastoma (Rb) and effect on outcome with comparison to a study from the 1990s.SettingPrimary, secondary, tertiary care: majority from South ...of England.ParticipantsA retrospective analysis of 93 new referrals of sporadic (non-familial) Rb to a specialist Rb unit in London, UK from January 2006 to February 2014.Primary and secondary outcomesInternational Intraocular Retinoblastoma Classification, lag times including parental delay and healthcare professional delay, patients requiring enucleation and requirement of adjuvant chemotherapy postenucleation (high-risk Rb).ResultsDuring the study period, 29% presented via accident and emergency (A&E). The median referral time from symptom onset to visiting primary care (PC) was 28 days and PC to ophthalmologist 3 days (range 0–181 days). The median time from local ophthalmologist to the Rb Unit was 6 days (0–33). No significant correlation was found between delay and International Classification of Retinoblastoma grade (p>0.05) or between postenucleation adjuvant chemotherapy and enucleation groups (p>0.05). Less enucleations (60%) are being performed compared with the previous study (81%) (p=0.0015).ConclusionsParents are attending A&E more compared with the 1990s and this may reflect the effect of public awareness campaigns. More eyes are being salvaged despite a similar number of children requiring adjuvant chemotherapy. High-risk Rb and Group E eyes do not correlate with increased lag time in the UK. Other determinants such as tumour biology may be more relevant.
Pre-treatment FDG-PET/CT scans were analyzed with machine learning to predict progression of lung malignancies and overall survival (OS).
A retrospective review across three institutions identified ...patients with a pre-procedure FDG-PET/CT and an associated malignancy diagnosis. Lesions were manually and automatically segmented, and convolutional neural networks (CNNs) were trained using FDG-PET/CT inputs to predict malignancy progression. Performance was evaluated using area under the receiver operating characteristic curve (AUC), accuracy, sensitivity, and specificity. Image features were extracted from CNNs and by radiomics feature extraction, and random survival forests (RSF) were constructed to predict OS. Concordance index (C-index) and integrated brier score (IBS) were used to evaluate OS prediction.
1168 nodules (n=965 patients) were identified. 792 nodules had progression and 376 were progression-free. The most common malignancies were adenocarcinoma (n=740) and squamous cell carcinoma (n=179). For progression risk, the PET+CT ensemble model with manual segmentation (accuracy=0.790, AUC=0.876) performed similarly to the CT only (accuracy=0.723, AUC=0.888) and better compared to the PET only (accuracy=0.664, AUC=0.669) models. For OS prediction with deep learning features, the PET+CT+clinical RSF ensemble model (C-index=0.737) performed similarly to the CT only (C-index=0.730) and better than the PET only (C-index=0.595), and clinical only (C-index=0.595) models. RSF models constructed with radiomics features had comparable performance to those with CNN features.
CNNs trained using pre-treatment FDG-PET/CT and extracted performed well in predicting lung malignancy progression and OS. OS prediction performance with CNN features was comparable to a radiomics approach. The prognostic models could inform treatment options and improve patient care.
NIH NHLBI training grant (5T35HL094308-12, John Sollee).
Purpose
Current practice in retinoblastoma (Rb) has transformed this malignancy into a curable disease. More attention should therefore be given to quality of life considerations, including measures ...related to examinations under anesthesia (EUAs). We aimed to investigate EUA measures in bilateral Rb patients and compare the findings to EUAs in unilateral Rb.
Methods
A retrospective analysis of bilateral Rb patients that presented to the London Rb service from 2006 to 2013, were treated and had long-term follow-up.
Results
A total of 62 Rb patients, 15 (24.2%) of which had International Intraocular Retinoblastoma Classification (IIRC) group A/B/no Rb at presentation, 26 (41.9%) C/D, and 21 (33.9%) were E in at least one eye. The mean number of EUAs was 35.8 ± 21.5, mean time from first to last EUA was 50.6 ± 19.9 months, and mean EUA frequency was 0.715 ± 0.293 EUAs/month. IIRC group was found not to correlate with any of the EUA measures. Age at presentation inversely correlated with time interval from first to last EUA and to EUA frequency (
p
≤ 0.029). Rb family history correlated with the latter measure (
p
= 0.005) and intraophthalmic artery chemotherapy and brachytherapy correlated with all EUA measures (
p
≤ 0.029). Mean follow-up time was 80.1 ± 24.3 months. When compared with a previously reported cohort of unilateral Rb, the present group underwent 3× more EUAs (
p
< 0.001) over nearly double the time (
p
< 0.001).
Conclusions
Families should be counselled on anticipated EUA burden associated with bilateral Rb. In this respect, age at presentation and family history were found to have a predictive role, whereas IIRC group did not.
Anterior chamber seeding following intraophthalmic artery chemotherapy is rarely reported.
To describe clinicopathologic observations in eyes in which intraophthalmic artery chemotherapy for ...retinoblastoma failed and to report anterior chamber involvement.
A retrospective case series of 12 enucleated eyes (11 patients) with retinoblastoma refractory to intraophthalmic artery chemotherapy between March 1, 2010, and October 31, 2013, at University College London Institute of Ophthalmology and the Retinoblastoma Service, Royal London Hospital. Data analysis was conducted from June 1, 2014, to March 1, 2015. The International Classification of Retinoblastoma groups were B in 1 eye (8%), C in 4 eyes (33%), and D in 7 eyes (58%). Systemic chemotherapy with vincristine sulfate, etoposide, and carboplatin had failed in 10 patients (91%) and 6 eyes (50%) received additional local treatments. In 6 eyes (50%) anterior chamber invasion was clinically detectable. On histopathologic examination, 4 eyes (33%) had no viable retinal tumor; the remainder had poorly differentiated tumor (6 eyes 50%) or moderately differentiated tumor (2 eyes 17%). Anterior segment involvement occurred in the ciliary body and/or ciliary muscle (7 eyes 58%), iris (6 eyes 50%), and cornea (4 eyes 33%).
Intraophthalmic artery chemotherapy can fail in eyes with retinoblastoma. In contrast to previous reports on outcomes following intraophthalmic artery chemotherapy, our series shows involvement of the anterior segment of the eye, including the ciliary body, iris, and cornea. Careful case selection and follow-up are advised.
The development of retinoblastoma is thought to require pathological genetic changes in both alleles of the
gene. However, cases exist where
mutations are undetectable, suggesting alternative ...pathways to malignancy. We used whole-genome sequencing (WGS) and transcriptomics to investigate the landscape of sporadic retinoblastomas derived from twenty patients, sought
and other driver mutations and investigated mutational signatures. At least one
mutation was identified in all retinoblastomas, including new mutations in addition to those previously identified by clinical screening. Ten tumours carried structural rearrangements involving
ranging from relatively simple to extremely complex rearrangement patterns, including a chromothripsis-like pattern in one tumour. Bilateral tumours obtained from one patient harboured conserved germline but divergent somatic
mutations, indicating independent evolution. Mutational signature analysis showed predominance of signatures associated with cell division, an absence of ultraviolet-related DNA damage and a profound platinum-related mutational signature in a chemotherapy-exposed tumour. Most
mutations are identifiable by clinical screening. However, the increased resolution and ability to detect otherwise elusive rearrangements by WGS have important repercussions on clinical management and advice on recurrence risks.
The relationship between lag time and outcomes in retinoblastoma (RB) is unclear. In this study, we aimed to study the effect of lag time between onset of symptoms and diagnosis of retinoblastoma ...(RB) in countries based on their national-income and analyse its effect on the outcomes.
We performed a prospective study of 692 patients from 11 RB centres in 10 countries from 1 January 2019 to 31 December 2019.
The following factors were significantly different among different countries based on national-income level: age at diagnosis of RB (
= 0.001), distance from home to nearest primary healthcare centre (
= 0.03) and mean lag time between detection of first symptom to visit to RB treatment centre (
= 0.0007). After adjusting for country income, increased lag time between onset of symptoms and diagnosis of RB was associated with higher chances of an advanced tumour at presentation (
< 0.001), higher chances of high-risk histopathology features (
= 0.003), regional lymph node metastasis (
< 0.001), systemic metastasis (
< 0.001) and death (
< 0.001).
There is a significant difference in the lag time between onset of signs and symptoms and referral to an RB treatment centre among countries based on national income resulting in significant differences in the presenting features and clinical outcomes.
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