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The aim of our study was to evaluate a protocol utilizing serum separator tubes (SST) to facilitate a faster, cost-effective, direct method for rapid sensitivity testing and identification of positive blood cultures. Spiked cultures were inoculated into either Becton Dickinson (BD) BACTEC(TM) Aerobic Plus or Anaerobic/F bottles containing sterile human blood. Bottles were immediately processed when positive. A parallel study using patient isolates was used in which bacteria were pelleted by SST from positive blood cultures. For identification, a portion of the pellet was tested by matrix-assisted laser desorption/ionization as described by the manufacturer. MicroScan panels and Vitek 2 results were compared. Categorical agreement was used as comparison to standard subculture and/or polymerase chain reaction methods. No discordant identifications were observed, and 86% generated a successful identification when compared to subculture methods. For the Vitek 2, we observed a 99% essential agreement when compared to the subculture method. For the MicroScan Walkaway, we observed 94.9%, 97.4%, and 100% categorical agreement for MIC panels 53, 38, and MICroSTREP Plus 2, respectively. Turnaround times were reduced from 4 hours for identification and 11 hours for antimicrobial sensitivity testing. We conclude that the SST method results in timelier, actionable results for antimicrobial stewardship initiatives.

ZusammenfassungDie Deutsche Gesellschaft für Pneumologie hat 2021 die AWMF S1-Leitlinie Long-/Post-COVID initiiert. In einem breiten interdisziplinären Ansatz wurde diese S1-Leitlinie basierend auf dem aktuellen Wissensstand gestaltet.Die klinische Empfehlung beschreibt die aktuellen Long- bzw. Post-COVID-Symptome, diagnostische Ansätze und Therapien.Neben der allgemeinen und konsentierten Einführung wurde ein fachspezifischer Zugang gewählt, der den aktuellen Wissensstand zusammenfasst.Die Leitlinie hat einen explizit praktischen Anspruch und wird basierend auf dem aktuellen Wissenszugewinn vom Autorenteam weiterentwickelt und adaptiert.

Background: Timely diagnosis of structural heart disease improves patient outcomes, yet many remain underdiagnosed. While population screening with echocardiography is impractical, ECG-based prediction models can help target high-risk patients. We developed a novel ECG-based machine learning approach to predict multiple structural heart conditions, hypothesizing that a composite model would yield higher prevalence and positive predictive values to facilitate meaningful recommendations for echocardiography. Methods: Using 2 232 130 ECGs linked to electronic health records and echocardiography reports from 484 765 adults between 1984 to 2021, we trained machine learning models to predict the presence or absence of any of 7 echocardiography-confirmed diseases within 1 year. This composite label included the following: moderate or severe valvular disease (aortic/mitral stenosis or regurgitation, tricuspid regurgitation), reduced ejection fraction 15 mm. We tested various combinations of input features (demographics, laboratory values, structured ECG data, ECG traces) and evaluated model performance using 5-fold cross-validation, multisite validation trained on 1 site and tested on 10 independent sites, and simulated retrospective deployment trained on pre-2010 data and deployed in 2010. Results: Our composite rECHOmmend model used age, sex, and ECG traces and had a 0.91 area under the receiver operating characteristic curve and a 42% positive predictive value at 90% sensitivity, with a composite label prevalence of 17.9%. Individual disease models had area under the receiver operating characteristic curves from 0.86 to 0.93 and lower positive predictive values from 1% to 31%. Area under the receiver operating characteristic curves for models using different input features ranged from 0.80 to 0.93, increasing with additional features. Multisite validation showed similar results to cross-validation, with an aggregate area under the receiver operating characteristic curve of 0.91 across our independent test set of 10 clinical sites after training on a separate site. Our simulated retrospective deployment showed that for ECGs acquired in patients without preexisting structural heart disease in the year 2010, 11% were classified as high risk and 41% (4.5% of total patients) developed true echocardiography-confirmed disease within 1 year. Conclusions: An ECG-based machine learning model using a composite end point can identify a high-risk population for having undiagnosed, clinically significant structural heart disease while outperforming single-disease models and improving practical utility with higher positive predictive values. This approach can facilitate targeted screening with echocardiography to improve underdiagnosis of structural heart disease.

A recent study by Wesselink et al. (Am J Epidemiol. 2022;191(8):1383–1395) adds to the growing body of research finding that vaccination for coronavirus disease 2019 (COVID-19) is safe for individuals either seeking pregnancy or who are pregnant. The study’s authors found no effect of COVID-19 vaccination on fecundity in a population of individuals with no known infertility who were attempting conception. The finding reinforces the messaging of the American Society for Reproductive Medicine COVID-19 Task Force, the aim of which is to provide data-driven recommendations to individuals contemplating pregnancy in the face of the COVID-19 pandemic. As safe and effective COVID-19 vaccines became available, and with an increasing number of studies showing a heightened risk of severe disease during pregnancy, an important role of the Task Force is to encourage vaccination during the preconceptual window and in early pregnancy. The Task Force supports ongoing research to address gaps in knowledge about safe and effective therapies and preventive measures for individuals contemplating pregnancy and during pregnancy. Such research will help optimize care for reproductive-age individuals in the face of current and future health crises.

To report which nonsteroidal anti-inflammatory drugs (NSAIDs) were associated with gastric or duodenal perforation (GDP) in dogs presented to a university teaching hospital and to report the frequency of prescription of NSAIDs by the corresponding referring veterinary community during the same time period.Retrospective cohort study of dogs from January 2007 to March 2020.Single university teaching hospital.A total of 30 dogs met inclusion criteria.Four dogs were administered more than 1 NSAID within 7 days of GDP, 3 dogs received a combination of an NSAID and a corticosteroid, and 1 dog received 2 NSAIDs and a corticosteroid. Four dogs received an overdose of an NSAID. One dog received an overdose of 1 NSAID and received an additional NSAID at the labeled dose within 7 days of GDP. Eighteen dogs received only 1 NSAID at the labeled dose. In these 18 dogs, meloxicam was administered in 44.4% (8/18), firocoxib in 27.8% (5/18), deracoxib in 16.7% (3/18), and piroxicam in 11.1% (2/18). One hundred and sixty surveys on NSAID prescribing practice were returned. Carprofen was the most commonly prescribed NSAID (70.6%), followed by meloxicam (10.6%), deracoxib (8.4%), firocoxib (7.8%), aspirin (1.5%), and other (0.9%).NSAID administration, even at labeled doses, appears to be a precipitating factor for GDP. Despite carprofen being the most frequently prescribed NSAID over the study period, no case of GDP received it as a single therapeutic agent. Further prospective evaluation is needed to verify these findings.

We examined whether the second monovalent SARS-CoV-2 mRNA booster increased antibody levels and their neutralizing activity to Omicron variants in nursing home residents (NH) residents and healthcare workers (HCW). We sampled 367 NH residents and 60 HCW after primary mRNA vaccination, first and second boosters, for antibody response and pseudovirus neutralization assay against SARS-CoV-2 wild-type (WT) (Wuhan-Hu-1) strain and Omicron BA1 variant. Antibody levels and neutralizing activity progressively increased with each booster but subsequently waned over weeks. NH residents, both those without and with prior infection, had a robust geometric mean fold rise (GMFR) of 10.2 (95% CI 5.1, 20.3) and 6.5 (95% CI 4.5, 9.3) respectively in Omicron-BA.1 subvariant specific neutralizing antibody levels following the second booster vaccination (p

There are many proposed classification systems for müllerian anomalies. The American Fertility Society (AFS) Classification from 1988 has been the most recognized and utilized. The advantages of this iconic classification include its simplicity, recognizability, and correlation with clinical pregnancy outcomes. However, the AFS classification has been criticized for its focus primarily on uterine anomalies, with exclusion of those of the vagina and cervix, its lack of clear diagnostic criteria, and its inability to classify complex aberrations. Despite this classification and others, the wide range of müllerian anomalies is still largely unknown and confusing to many providers. Consequently, müllerian anomalies may go undiagnosed for extended periods, receive inappropriate or inadequate surgical interventions, and result in persistent issues such as pain or loss of reproductive function. The American Society for Reproductive Medicine Task Force on Müllerian Anomalies Classification was formed and charged with designing a new classification. The Task Force set goals for a new classification and chose to base it on the iconic AFS classification from 1988 because of its simplicity and recognizability, while expanding and updating it to include all categories of anomalies. In addition, this was recognized as an opportunity to raise awareness of this area of medicine, educate providers and learners, and promote patient advocacy. Presented here is the new American Society for Reproductive Medicine Müllerian Anomalies Classification 2021.

Background Obstructed Mullerian anomalies in adolescents can be grouped into complete outflow obstruction or unilateral outflow obstruction. The challenge with unilateral obstructions is that diagnosis can be delayed for weeks to years, as menstruation occurs normally through the patent side and thus obstruction is often not initially considered in the differential diagnosis. Cases In this case series, we present 3 unusual and challenging cases of unilateral Mullerian obstructions in adolescent female patients, along with strategies for diagnosis and management. Each case involves a unique variation of a recognized Mullerian anomaly that was initially misdiagnosed, leading to a significant delay in definitive diagnosis and treatment. Summary and Conclusion These cases highlight that even among the well-described Mullerian anomalies, there can be unusual variations. Patients who do not respond to initial management or who develop new symptoms should be further evaluated to confirm the correct diagnosis Tools that may be helpful in making the correct diagnosis include imaging studies that use contrast dye to better delineate cavities and their connections, magnetic resonance imaging with a radiologist experienced in Mullerian anomalies, and an examination under anesthesia. A definitive diagnosis is critical to the successful management of these conditions, and individualized management plans are required for each patient depending on their specific anomaly and their preferences for treatment.

The German Society of Pneumology initiated 2021 the AWMF S1 guideline Long COVID/Post-COVID. In a broad interdisciplinary approach, this S1 guideline was designed based on the current state of knowledge.The clinical recommendations describe current Long COVID/Post-COVID symptoms, diagnostic approaches, and therapies.In addition to the general and consensus introduction, a subject-specific approach was taken to summarize the current state of knowledge.The guideline has an explicit practical claim and will be developed and adapted by the author team based on the current increase in knowledge.Die Deutsche Gesellschaft für Pneumologie hat 2021 die AWMF S1-Leitlinie Long-/Post-COVID initiiert. In einem breiten interdisziplinären Ansatz wurde diese S1-Leitlinie basierend auf dem aktuellen Wissensstand gestaltet.Die klinische Empfehlung beschreibt die aktuellen Long- bzw. Post-COVID-Symptome, diagnostische Ansätze und Therapien.Neben der allgemeinen und konsentierten Einführung wurde ein fachspezifischer Zugang gewählt, der den aktuellen Wissensstand zusammenfasst.Die Leitlinie hat einen explizit praktischen Anspruch und wird basierend auf dem aktuellen Wissenszugewinn vom Autorenteam weiterentwickelt und adaptiert.

Appendicitis is a common condition that is often confirmed with imaging. Ultrasound (US) is recommended as the first radiologic test in the work-up of appendicitis in children. Increased body mass index (BMI) has been implicated as a limiting factor to the sensitivity of US. This has drastic public health ramifications, as pediatric obesity has been increasing at alarming rates. The purpose of this study is to compare age-adjusted BMI z-scores to the frequency of sonographic visualization of the appendix. A retrospective review of 500 consecutive reports of US exams ordered for appendicitis in patients with a documented BMI was performed. Patients were stratified by BMI z-score based on, and the visualization frequency of the appendix was compared to the BMI z-score group. A logistic regression analysis generated the odds of visualization of the appendix by BMI z-score group. Primary home language, ethnicity, sex and insurance status were included in the logistic regression model to assess these characteristics as potential effect modifiers. Of the 500 patients, 52.4% were male, 56.4% were Hispanic and 62.0% had government insurance. BMI z-score distribution groups were as follows: 4.2% were 2. The visualization frequency was 61.1% for boys and 46.2% for girls (P 2. Children with a BMI z-score greater than 2 were less likely to have a US with visualization of the appendix compared to children with a BMI z-score between −1 and 1 (adjusted odds ratio [aOR]: 0.21, 95% CI: 0.11–0.40, P

Child abuse is a global public health concern. Injuries from physical abuse may be clinically occult and not appreciable on physical examination. Imaging is therefore critical in identifying and do...

Rationale and objectives Recent changes in radiology fellowships include musculoskeletal radiology adopting a match system, interventional radiology transitioning away from diagnostic radiology to offer direct-entry programs, and a common fellowship application timeline created by the Society for Chairs of Academic Radiology Departments (SCARD). The concept of mini-fellowships has also emerged with the elimination of the oral American Board of Radiology examinations that had been administered in the final year of residency training prior to 2014. This paper seeks to assess the opinions of fellowship program directors, residency program directors, and chief residents regarding these recent changes. Materials and methods This is a cross-sectional study using a web-based survey posed to fellowship program directors, residency program directors, and chief residents in 2020. Questions sought to explore current attitudes toward the following topics: (1) a common fellowship application timeline; (2) a common fellowship match; and (3) the status of mini-fellowships in diagnostic radiology. In addition, the number of fellowship positions for each subspecialty was estimated using subspecialty society directories, Accreditation Council for Graduate Medical Education (ACGME) data, and individual program websites. Results Deidentified responses were collected electronically and aggregated. The three respondent groups preferred a common fellowship application timeline at rates of 67% among fellowship program directors, 80% residency program directors, and 74% residents. A common match system across all subspecialties was preferred at rates of 50% fellowship program directors, 74% residency program directors, and 26% chief residents. There was widespread reported compliance with the SCARD fellowship timeline policy. Subspecialty programs using the match system reported interviewing greater numbers of applicants per position. Fellowship directors and chief residents reported that the most common duration of mini-fellowship experiences was 2 to 3 months. Conclusion There is a division between chief residents and program directors regarding the preference for a common radiology match. Adopting a radiology-wide fellowship match would increase the number of interviews required. The SCARD fellowship timeline policy has been successful, and there is support across stakeholders regarding the common timeline. Mini-fellowships are highly variable in length and structure.

A 21-year-old with a history of cyclic abdominal pain beginning at age 13 years and a previous diagnosis of a complex mullerian anomaly presented with abdominal pain and a finding of a right distended hemiuterus, left hematosalpinx, and cervix separate from the uterine body. After laparoscopic decompression for symptomatic relief at that time, she presented to our center for definitive management. After a diagnostic vaginoscopy and laparoscopy confirmed the diagnosis of uterine isthmus agenesis, an abdominal approach to uterocervical anastomosis was planned and undertaken. At the postsurgical clinical follow-up, the patient reported normal menses and resolution of pain, and imaging confirmed maintenance of anastomotic patency. The diagnosis and classification system of mullerian anomalies are complex, and few reports detail the management of rare mullerian anomalies. In this case report, the successful anastomosis of the uterus and the cervix is reviewed as an approach that can restore normal menses successfully and safely and potentially allow for future fertility in patients with uterine isthmus agenesis.

Objective To describe the incidence of first trimester clinical pregnancy loss in the infertile population during the first wave of the COVID-19 pandemic in New York City. Design Web-based cross-sectional survey. Setting New York City-based academic reproductive medicine practice. Patient(s) A total of 305 infertile patients with a confirmed intrauterine pregnancy in their first trimester between December 1, 2019, and April 1, 2020, were matched by age and treatment type to pregnant patients from the year prior. Intervention(s) None. Main Outcome Measure(s) First trimester clinical pregnancy loss rate. Result(s) In total, the first trimester pregnancy loss rate was lower in the COVID-19 era cohort compared with that in the pre-COVID-19 era cohort (11.9% vs. 20.1%). There was no difference between cohorts in the pregnancy loss rate of women conceiving via fresh embryo transfer (19.6% vs. 24.4%) or via frozen embryo transfer with preimplantation genetic testing (5.4% vs. 9.5%,). In women conceiving via frozen embryo transfer without preimplantation genetic testing, the pregnancy loss rate was statistically lower in the COVID-19 group (12.5% vs. 24.5%). There was no difference in the pregnancy loss rate by treatment type when stratifying by COVID-19 testing or symptom status. Of the 40 (13.1%) patients with a pregnancy loss, there was no difference in self-reported COVID-19 symptoms or symptom type compared with results in those who did not experience a pregnancy loss. Conclusion Despite patients expressing significant worry about COVID-19 and pregnancy, our data provides reassuring information that the first trimester pregnancy loss rate is not elevated for women conceiving via assisted reproductive technology during the global COVID-19 pandemic.

Child abuse is a common cause of morbidity and mortality in the pediatric population. Despite well-defined evidence establishing bona fide clinical and imaging indicators of child abuse, denialists have emerged on behalf of defendants utilizing unaccepted scientific positions based on literature that they have often authored themselves. This manuscript describes many of the trends in recent legal proceedings while highlighting the importance of consensus statements and professional ethics as they pertain to child abuse imaging. Knowledge of these cases and legal defense strategies is valuable to potential expert witnesses in relevant proceedings.

Ultrasound of the right lower quadrant for appendicitis requires specific training and practice. Improved visualization of the appendix can result in decreased utilization of computed tomography. Increasing the sensitivity of ultrasound for appendicitis thus decreases radiation exposure, reduces cost, and improves the patient healthcare experience in accordance with the three principles of the triple aim designated by the Institute for Healthcare Improvement. The purpose of this study was to examine the effect of a structured training program supplemented by technologist feedback on sonographic visualization of the appendix in a large pediatric health system.The baseline ultrasound visualization frequency was computed for 20 ultrasound technologists in a large pediatric health system. Following this, technologists were informed of their individual and relative performance. Those with visualization frequencies less than 75% were provided structured training by a designated sonographer with an appendix visualization frequency above 75% while those with greater than 75% visualization continued to be monitored and informed of their monthly frequency. Following this structured training, appendix visualization frequencies were monitored over the next 5 months.There was no significant effect of sonographer career experience on the baseline appendix visualization frequency. Fourteen of 20 technologists demonstrated improved visualization frequencies post-intervention. The composite visualization frequency among these 20 technologists improved from 66.55 to 69.14%. This resulted in a potential savings of 38 CT scans during the post-intervention period.An appendix visualization rate monitoring program coupled with structured training was successful in improving the appendix visualization rate throughout a large pediatric health system. This program demonstrates the positive effect that monitoring and targeted intervention can have on a quality improvement program. The program continues to be carried out as part of a plan-study-do-act cycle.

Supplemental Digital Content is available in the text., Background: Atrial fibrillation (AF) is associated with substantial morbidity, especially when it goes undetected. If new-onset AF could be predicted, targeted screening could be used to find it early. We hypothesized that a deep neural network could predict new-onset AF from the resting 12-lead ECG and that this prediction may help identify those at risk of AF-related stroke. Methods: We used 1.6 M resting 12-lead digital ECG traces from 430 000 patients collected from 1984 to 2019. Deep neural networks were trained to predict new-onset AF (within 1 year) in patients without a history of AF. Performance was evaluated using areas under the receiver operating characteristic curve and precision-recall curve. We performed an incidence-free survival analysis for a period of 30 years following the ECG stratified by model predictions. To simulate real-world deployment, we trained a separate model using all ECGs before 2010 and evaluated model performance on a test set of ECGs from 2010 through 2014 that were linked to our stroke registry. We identified the patients at risk for AF-related stroke among those predicted to be high risk for AF by the model at different prediction thresholds. Results: The area under the receiver operating characteristic curve and area under the precision-recall curve were 0.85 and 0.22, respectively, for predicting new-onset AF within 1 year of an ECG. The hazard ratio for the predicted high- versus low-risk groups over a 30-year span was 7.2 (95% CI, 6.9–7.6). In a simulated deployment scenario, the model predicted new-onset AF at 1 year with a sensitivity of 69% and specificity of 81%. The number needed to screen to find 1 new case of AF was 9. This model predicted patients at high risk for new-onset AF in 62% of all patients who experienced an AF-related stroke within 3 years of the index ECG. Conclusions: Deep learning can predict new-onset AF from the 12-lead ECG in patients with no previous history of AF. This prediction may help identify patients at risk for AF-related strokes.

Eine Osteogenesis imperfecta („Glasknochenkrankheit“) ist eine genetisch determinierte Erkrankung des Kollagenstoffwechsels, die zu Frakturen fuhrt. Das klinische Spektrum ist sehr breit. Typisch sind blaue Skleren, Kleinwuchs, knocherne Deformitaten, Skoliose, muskulare Schwache, Hypakusis und Hypermobilitat von Gelenken. Die meisten Patienten weisen durch die Erkrankung starke Funktionseinschrankungen auf, durch die sie in ihrer Erwerbsfahigkeit und der Fahigkeit, am sozialen Leben teilzunehmen, stark eingeschrankt sind. Die Therapie beruht auf den 3 Saulen medikamentose Therapie, Operationen und Rehabilitation. In diesem Beitrag wird ein Uberblick gegeben uber den aktuellen Stand der Rehabilitation von Patienten im Erwachsenenalter.

Congenital brain tumors, defined as those diagnosed prenatally or within the first 2 months of age, represent less than 2% of pediatric brain tumors. Their location, prevalence and pathophysiology differ from those of tumors that develop later in life. Imaging plays a crucial role in diagnosis, tumor characterization and treatment planning. The most common lesions diagnosed in utero are teratomas, followed by gliomas, choroid plexus papillomas and craniopharyngiomas. In this review, we summarize the pathogenesis, diagnosis, management and prognosis of the most frequent fetal brain tumors.

A motor-assisted elliptical trainer is being used clinically to help individuals with physical disabilities regain and/or retain walking ability and cardiorespiratory fitness. Unknown is how the device's training parameters can be used to optimize movement variability and regularity. This study examined the effect of motor-assisted elliptical training speed as well as body weight support (BWS) on center of pressure (CoP) movement variability and regularity during training.CoP was recorded using in-shoe pressure insoles as participants motor-assisted elliptical trained at three speeds (20, 40 and 60 cycles per minute) each performed at four BWS levels (0 %, 20 %, 40 %, and 60 %). Separate two-way repeated measures ANOVAs (3 × 4) evaluated impact of training speed and BWS on linear variability (standard deviation) and non-linear regularity (sample entropy) of CoP excursion (anterior-posterior, medial-lateral) for 10 dominant limb strides.Training speed and BWS did not significantly affect the linear variability of CoP in the anterior-posterior or medial-lateral directions. However, sample entropy in both directions revealed the main effect of training speed (p 0.0001), and a main effect of BWS was observed in the medial-lateral direction (p = 0.004). Faster training speeds and greater levels of BWS resulted in more irregular CoP patterns.The finding that speed and BWS can be used to manipulate CoP movement variability when using a motor-assisted elliptical has significant clinical implications for promoting/restoring walking capacity. Further research is required to determine the impact of motor-assisted elliptical speed and BWS manipulations on functional recovery of walking in individuals who have experienced a neurologic injury or illness.

Objective To assess if a surgical boot camp improves laparoscopic skill among reproduction endocrinology and infertility (REI) fellows and increases fellow desire to incorporate surgical skills into practice and to examine whether fellowship in vitro fertilization (IVF) volume correlates with surgical efficiency. Design Prospective evaluation. Setting Simulation Center. Patient(s) Forty REI fellows. Intervention(s) Fellows were timed before and after training in laparoscopic suturing and knot tying and while using virtual simulators. Fellows were surveyed before boot camp on prior experience with IVF and reproductive surgery, and immediately and 1 month after boot camp on their desire to incorporate surgical skills into practice. Main Outcome Measure(s) Efficiency of laparoscopic suturing and knot tying before and after boot camp; likelihood and persistence of incorporating surgical skills into practice immediately and 1 month after boot camp; and correlation between fellowship IVF volume and fellow surgical efficiency. Result(s) Fellows experienced significant improvement in laparoscopic suturing (44 sec), intracorporeal knot tying (82 sec), and extracorporeal knot tying (71 sec). Fellows reported being more likely to incorporate operative hysteroscopy (89%), operative laparoscopy (87%), and laparoscopic suturing (84%) into practice immediately following boot camp with no difference 1 month later. Fifty-four percent of fellows reported being more likely to perform robotic surgery after the boot camp, increasing to 70% 1 month later. There were weak correlations between IVF case volume and efficiency in laparoscopic suturing or hysteroscopic polypectomy (Spearman correlation coefficients, -0.14 and -0.03). Conclusion(s) An intensive surgical boot camp enhances surgical skill among REI fellows.

A 3-year-old girl presented with ataxia, dilated pupils, and behavioral change prompting work up for stroke. Her medical history included chronic mydriasis and patent ductus arteriosus requiring aortoplasty. Magnetic resonance imaging of the brain demonstrated confluent white matter signal abnormality concerning for leukodystrophy. Magnetic resonance angiography revealed a cerebral vessel arteriopathy with a “broomstick appearance” and other neuroradiographic findings consistent with ACTA2 mutation. Pathogenic Arg179His ACTA2 mutation was confirmed in the patient. ACTA2-related leukovasculopathy should be considered during workup of patients with abnormal white matter (eg, leukodystrophies), childhood stroke, and arteriopathies. Recognizing the combination of commonly associated physical and medical conditions associated with radiographic features of this neurogenetic condition will prompt appropriate care and screening for comorbidities associated with this disorder.