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Pamela B Morris,1 Kellie H McLain,1 Hector A Malave,2 James A Underberg,3 Ngoc-Anh Le,4 Michael D Shapiro,5 Deborah A Winegar,6 Ray Pourfarzib6 1Division of Cardiology, Medical University of South Carolina, Charleston, SC, USA; 2Cardiology of Atlanta, Atlanta, GA, USA; 3Department of Medicine, New York University Langone Medical Center, New York, NY, USA; 4Atlanta Veterans Affairs Medical Center, Decatur, GA, USA; 5Oregon Health and Science University, Portland, OR, USA; 6LipoScience, Inc., Raleigh, NC, USA Abstract: Many subjects with relatively normal, or even optimal, levels of low-density lipoprotein cholesterol (LDL-C) have increased atherogenic lipoprotein particle concentrations (apolipoprotein B [apoB] and LDL particle number [LDL-P] determined by nuclear magnetic resonance spectroscopy [NMR]). Numerous analyses have demonstrated that apoB and LDL-P predict the risk of future cardiovascular events more robustly than LDL-C, as estimated using the Friedewald equation. Little is known about the relationship between an individual's apoB and LDL-P level, and whether the relationship is comparable at different levels of LDL-C. The aim of this study was to examine the correlation between plasma apoB and LDL-P levels and specifically to evaluate the heterogeneity of LDL-P at low levels of apoB (< the 20th population percentile [78 mg/dL]). Data were derived from a group of consecutive patients added to a large, single laboratory database (LipoScience, Inc.) during a 1-week period in which a standard lipid profile, apoB, and LDL-P levels were available. When risk categories were assigned to the subjects using the Framingham Offspring Study's population percentiles for apoB and LDL-P, there was good agreement between the two measures when LDL-C levels were high (≥160 mg/dL). However, among individuals with low LDL-C and apoB, NMR analysis could identify a subgroup of individuals with potentially greater cardiovascular risk, as suggested by unexpected elevations in LDL-P. Keywords: apolipoprotein B, LDL particle number, nuclear magnetic resonance spectroscopy, lipoproteins

Endovascular procedures are minimally invasive approaches to treat conditions affecting blood vessels without the need for large incisions. The benefits are less blood loss and faster recovery. One condition commonly treated endovascularly is aortic aneurysmal disease often secondary to atherosclerosis or chronic hypertension. As endovascular aneurysm repair becomes increasingly complex and sophisticated, the intraoperative organization and management of wires from multiple access sites becomes paramount. Often, the physician selects visceral or great vessels for delivery of stent grafts to maintain vessel patency. Loss of wire in critical target vessels and wire contamination pose significant patient risks. WireWatch (BioTex Inc. Houston, Texas, USA) is a novel device designed for intraoperative wire management to improve surgical field organization, provide wire stabilization, and prevent dropped wires. This case describes its use in a 73-year-old female undergoing a fenestrated endovascular aneurysm repair of 5.6 cm types IV thoracoabdominal aortic aneurysm.

We present a toddler with acute sphenoid sinusitis presenting as status epilepticus with fever, intracranial abscess and meningitis. Cerebrospinal fluid analysis suggested bacterial meningitis, but polymerase chain reaction test was positive for human herpes virus 6. We highlight diagnosis and treatment of this uncommon condition.

Background: Low dose oral minoxidil (LDOM) is a preferred treatment for alopecia due to ease of use and efficacy. While LDOM is typically well tolerated, patients may experience a temporary increase in hair shedding starting treatment, colloquially regarded as “dread shed”. One proposed method to combat this is to overlap therapies by maintaining use of topical minoxidil when initiating LDOM. Objective: To evaluate the impact of maintaining topical minoxidil when initiating LDOM on “dread shed”. Methods: We performed a retrospective chart review of patients seen at New York University Langone Health Dermatology from January 1, 2008 to August 1, 2023 prescribed LDOM. Results: A total of 115 patients met inclusion criteria, of whom 37 maintained use of topical minoxidil when initiating LDOM. Six patients experienced “dread shed” when initiating LDOM, 2 of whom overlapped therapies. We did not find that overlapping therapies had a significant impact on decreasing rates of “dread shed”. Limitations: Limitations include retrospective design, sample size, and subjective patient-reported assessment of hair shedding. Conclusions: A total of 5.2% of patients experienced dread shed, which is lower than previously reported in literature. Maintaining topical minoxidil during LDOM initiation does not significantly impact “dread shed”. This remains a significant side effect deserving of further research.

Hepatocellular carcinoma is one of the most common malignancies worldwide. However, brain metastases from this cancer are incredibly rare. While the hepatocellular carcinoma mortality rate in the United States has been increasing, hepatocellular carcinoma is rare among patients without underlying liver disease. Here we present a patient with a history of left optic nerve meningioma treated with stereotactic radiosurgery who presented with acute vision loss. Magnetic resonance imaging revealed an enhancing mass lesion in the region of the sella turcica. Neurosurgical histopathology revealed a metastatic lesion consistent with hepatocellular carcinoma. Systemic workup failed to identify a primary liver lesion.

Background. Limited information is available regarding outcomes of islet cell isolation (ICI) and transplantation (ITx) using medical assistance in dying (MAiD) donors. We aimed to assess the feasibility and outcomes of ICI and ITx in MAiD donors. Methods. ICI and ITx from MAiD were compared with donation after circulatory death (DCD) type III between 2016 and 2023. Differences of isolated islet equivalents (IEQs), numeric viability and other quantitative in vitro metabolic measures were assessed. Results. Overall, 81 ICIs were available of whom 34 (42%) and 47 (58%) from MAiD and DCD-III, respectively. There were no differences of pancreas and digested tissue weight and islets viability among the 2 groups; however, cold ischemic time was longer in MAiD (11.5 versus 9.1 h; P = 0.021). The IEQ (P

Background:. Janus kinase inhibitor (JAKi) therapy has revolutionized the treatment landscape for alopecia areata (AA); however, access may be limited by a lack of insurance coverage and high out-of-pocket costs. Objective:. We aimed to evaluate real-world patient experiences regarding access to JAKi therapy. Methods:. We conducted an online patient-centered survey using the National Alopecia Areata Foundation listserv. Results:. In total 784 individuals initiated our survey, and 600 completed it in full (76.5%). While more non-White patients considered obtaining JAKi therapy, more White patients reported the use of this medication class. In total, 74.2% lacked insurance coverage or had partial coverage for JAKi, and 52% expressed dissatisfaction with available coverage. However, 52.9% reported delays in starting medication due to insurance approval processes, contributing to worsened AA and related stress. In total, 35% of patients did not try to obtain JAKi therapy due to concerns about costs, and 18.2% discontinued therapy due to financial barriers. Also, 19.8% of patients reported utilizing financial savings to pay for medication, and 55.2% reported using a copay assistance card. Further, 12.2% reported forgoing other necessities to pay for AA expenses. Limitations:. Our results are limited by the subjective nature of survey studies. The recency of FDA approval for JAKi therapy may also influence patients’ perceptions of access to care. Conclusion:. Patients with AA face significant barriers when trying to obtain JAKi therapy, and existing racial inequities may be exacerbated by these barriers. Further advocacy work is needed to improve access to care.

Background:. The regenerative properties of platelet growth factors make platelet-rich-plasma (PRP) an attractive modality for treatment of aging skin. The main objective of this study was to determine efficacy and safety of PRP injections and microneedling compared with saline injections in women with aging skin of the face. Methods:. In this prospective, randomized clinical trial, 18 women with facial aging were randomized to receive either PRP injections to the unilateral face and saline injections to the contralateral side, or vice versa. Microneedling was performed after injections on the entire face. Physician assessment, photographs, and treatment satisfaction questionnaires were used for outcome assessment at baseline and 16- and 24-week follow-ups. Results:. There was no evidence of improvement and suggestion of worsening in skin laxity and rhytides from baseline to weeks 4, 16, and 24 for PRP and saline (all P ≤ 0.004) and no notable difference in skin roughness between baseline and follow-up time points for PRP or saline (all P ≥ 0.19). The degree of change in skin laxity, rhytides, and skin roughness from baseline to follow-up time points was similar for PRP and saline. All patients experienced some degree of pain/discomfort and burning/stinging sensation at treatment weeks 4, 8, and 12 for both saline and PRP. Conclusions:. PRP injections did not seem to be effective for treatment of aging skin of the face in women, with no notable macroscopic improvement in appearance when compared with baseline or saline injections. Advanced age of study participants (>45 years) and less-sensitive methods of evaluation may be potential contributing factors to the lack of detected response.

We present the first known case of a patient with BRD2::NUTM1-driven NUT carcinoma. A 59-year-old woman presented with poorly differentiated squamous cell lung cancer metastatic to the pleura. Eventually, a positive NUT immunohistochemistry, NUT fluorescence in situ hybridization, and RNA next-generation sequencing with a BRD2::NUTM1 fusion led to the diagnosis of NUT carcinoma. She received multiple lines of chemotherapy with response and is still alive at 2 years postdiagnosis. This report expands on the known fusions in NUT carcinoma and highlights potential differences in patient prognosis on the basis of gene fusion partners.

Summary: Background: Tuberculosis is a leading cause of infectious disease mortality worldwide, but diagnosis of pulmonary tuberculosis remains challenging. Oral swabs are a promising non-sputum alternative sample type for the diagnosis of pulmonary tuberculosis. We aimed to assess the diagnostic accuracy of oral swabs to detect pulmonary tuberculosis in adults and children and suggest research implications. Methods: In this systematic review, we searched published and preprint studies from Jan 1, 2000, to July 5, 2022, from eight databases (MEDLINE, Embase, Scopus, Science Citation Index, medRxiv, bioRxiv, Global Index Medicus, and Google Scholar). We included diagnostic accuracy studies including cross-sectional, cohort, and case-control studies in adults and children from which we could extract or derive sensitivity and specificity of oral swabs as a sample type for the diagnosis of pulmonary tuberculosis against a sputum microbiological (nucleic acid amplification test [NAAT] on sputum or culture) or composite reference standard. Findings: Of 550 reports identified by the search, we included 16 eligible reports (including 20 studies and 3083 participants) that reported diagnostic accuracy estimates on oral swabs for pulmonary tuberculosis. Sensitivity on oral swabs ranged from 36% (95% CI 26–48) to 91% (80–98) in adults and 5% (1–14) to 42% (23–63) in children. Across all studies, specificity ranged from 66% (95% CI 52–78) to 100% (97–100), with most studies reporting specificity of more than 90%. Meta-analysis was not performed because of sampling and testing heterogeneity. Interpretation: Sensitivity varies in both adults and children when diverse methods are used. Variability in sampling location, swab type, and type of NAAT used in accuracy studies limits comparison. Although data are suggestive that high accuracy is achievable using oral swabs with molecular testing, more research is needed to define optimal methods for using oral swabs as a specimen for tuberculosis detection. The current data suggest that tongue swabs and swab types that collect increased biomass might have increased sensitivity. We would recommend that future studies use these established methods to continue to refine sample processing to maximise sensitivity. Funding: Bill and Melinda Gates foundation (INV-045721) and FIND (Netherlands Enterprise Agency on behalf of the Minister for Foreign Trade and Development Cooperation [NL-GRNT05] and KfW Development Bank, German Federal Ministry of Education and Research [KFW-TBBU01/02]).

Background:. This study considers observers’ reflexive responses to the rejuvenated face, and how instinctive responses relate to subjective judgment. We investigated observers’ reflexive perception of faces both pre and post surgical intervention during the early stages of visual processing. Subjective character attribution for all test images was also assessed by the same observers. Method:. Forty frontal facial images of 20 patients portraying the pre- and postoperative high superficial musculoaponeurotic system facelift along with variable concomitant procedures were studied. Nineteen lookzone regions were mapped post hoc onto each image. Forty observers examined the images, whereas an eye-tracking camera recorded their eye movements. Visual fixation data were recorded and analyzed. Observers also rated each image on the basis of five elemental positive character attributes. Results:. A statistically coherent but nonsignificant (P > 0.05) trend was identified with the surgical intervention resulting in greater attention being paid to the central triangle region of the face with reduction in attention to the facial periphery. Facial rejuvenation significantly increased the subjective character ratings of all five positively valenced attributes tested. Average age estimate of the photos decreased significantly from 54 to 48.6 years (true average age of 57.4 years). Conclusions:. We provide data illustrating both reflexive and subjective responses to facial rejuvenation. Observers reported a more favorable impression of the treated faces and evaluated them as being younger than their true age. A trend was detected for increased visual fixation of the central facial region following rejuvenation. Interpretation of these findings and indication for further research is provided.

Therapeutic Area: ASCVD/CVD in Special Populations Background: Association between socioeconomic status and cardiovascular diseases (CVD) is well-documented. Racial disparities in prevalence and outcomes of CVD have also been extensively studied. The intersection of income, race, and CVD is relatively underexplored. Hence, we aimed to study the prevalence of CVD and associated risk factors among different races/ethnicities across different income groups. Methods: This retrospective analysis included data from participants from the National Health and Nutrition Examination Survey from 2005-2018. Adults ≥20 years who identified as non-Hispanic (NH) White, NH Black, or Hispanic (Mexican-American and other Hispanics) were included. Family income to poverty ratio (PIR) was calculated by dividing family (or individual) income by poverty guidelines specific to the survey year and used as a measure of socioeconomic status. The participants were divided into four quartiles based on PIR 3.9 (highest income). Weighted logistic regression was performed to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) to determine the association of race/ethnicity and CVD and associated risk factors in each quartile. Models were adjusted for age, sex, race, health insurance, marital status, citizenship status, and level of education and PIR. Results: We included 31,884 unweighted participants that corresponded to 191,307,167 weighted, nationally representative participants. Of these, 8,009 (weighted 16.3%), 7,967 (weighted 19.2%), 7,944 (weighted 26.9%), and 7,964 (weighted 37.5%) participants belonged to 1st, 2nd, 3rd, and 4th quartiles respectively. The proportion of NH-Whites increased with increasing PIR quartiles whereas the proportion of NH-Blacks and Hispanics decreased with increasing PIR quartiles. In adjusted analyses, the prevalence odds of diabetes mellitus (DM), hypertension, coronary artery disease (CAD), congestive heart failure (CHF), and stroke decreased in a step-wise manner from 1st to 4th PIR quartile. Overall, NH Blacks had higher prevalence odds of DM, hypertension, obesity, CHF, and stroke compared to NH Whites, whereas NH Whites had higher prevalence odds of CAD and dyslipidemia compared to NH Blacks (Figure 1). The model testing for PIR-race/ethnicity interaction revealed that PIR-race/ethnicity interaction was significant for obesity (P-interaction 0.002) and diabetes mellitus (P-interaction 0.027) (Figure 2). The difference in prevalence odds between NH White adults and NH Black adults was greater for obesity and diabetes mellitus in the highest PIR quartile compared to the lowest PIR quartile. PIR-race/ethnicity interaction for stroke was 0.053 with the difference in prevalence odds between NH White adults and NH Black adults being greater in the higher PIR quartiles compared to the lowest PIR quartile. Conclusions: The difference in prevalence between NH White and NH Black adults was greater for diabetes mellitus, obesity and stroke in the highest PIR quartile compared to the lowest PIR quartile. These data suggest a complex interplay between race/ethnicities and income inequalities resulting in disparities in CVD.

Therapeutic Area: ASCVD/CVD in Special Populations Background: Association between socioeconomic status and cardiovascular diseases (CVD) is well-documented. Racial disparities in prevalence and outcomes of CVD have also been extensively studied. The intersection of income, race, and CVD is relatively underexplored. Hence, we aimed to study the prevalence of CVD and associated risk factors among different races/ethnicities across different income groups. Methods: This retrospective analysis included data from participants from the National Health and Nutrition Examination Survey from 2005-2018. Adults ≥20 years who identified as non-Hispanic (NH) White, NH Black, or Hispanic (Mexican-American and other Hispanics) were included. Family income to poverty ratio (PIR) was calculated by dividing family (or individual) income by poverty guidelines specific to the survey year and used as a measure of socioeconomic status. The participants were divided into four quartiles based on PIR 3.9 (highest income). Weighted logistic regression was performed to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) to determine the association of race/ethnicity and CVD and associated risk factors in each quartile. Models were adjusted for age, sex, race, health insurance, marital status, citizenship status, and level of education and PIR. Results: We included 31,884 unweighted participants that corresponded to 191,307,167 weighted, nationally representative participants. Of these, 8,009 (weighted 16.3%), 7,967 (weighted 19.2%), 7,944 (weighted 26.9%), and 7,964 (weighted 37.5%) participants belonged to 1st, 2nd, 3rd, and 4th quartiles respectively. The proportion of NH-Whites increased with increasing PIR quartiles whereas the proportion of NH-Blacks and Hispanics decreased with increasing PIR quartiles. In adjusted analyses, the prevalence odds of diabetes mellitus (DM), hypertension, coronary artery disease (CAD), congestive heart failure (CHF), and stroke decreased in a step-wise manner from 1st to 4th PIR quartile. Overall, NH Blacks had higher prevalence odds of DM, hypertension, obesity, CHF, and stroke compared to NH Whites, whereas NH Whites had higher prevalence odds of CAD and dyslipidemia compared to NH Blacks (Figure 1). The model testing for PIR-race/ethnicity interaction revealed that PIR-race/ethnicity interaction was significant for obesity (P-interaction 0.002) and diabetes mellitus (P-interaction 0.027) (Figure 2). The difference in prevalence odds between NH White adults and NH Black adults was greater for obesity and diabetes mellitus in the highest PIR quartile compared to the lowest PIR quartile. PIR-race/ethnicity interaction for stroke was 0.053 with the difference in prevalence odds between NH White adults and NH Black adults being greater in the higher PIR quartiles compared to the lowest PIR quartile. Conclusions: The difference in prevalence between NH White and NH Black adults was greater for diabetes mellitus, obesity and stroke in the highest PIR quartile compared to the lowest PIR quartile. These data suggest a complex interplay between race/ethnicities and income inequalities resulting in disparities in CVD.

Background:. Prophylactic nipple-sparing mastectomies (NSM) have become increasingly common, although there is little long-term data on its efficacy in prevention of breast cancer. The objective of this study was to assess the incidence of breast cancer in a cohort of patients undergoing prophylactic NSM with a median follow-up of 10 years. Methods:. Patients receiving prophylactic NSM at a single institution from 2006 to 2019 were included in a retrospective nature. Patient demographics, genetic mutations, operative details, and specimen pathology were recorded, and all postoperative patient visits and documentation were screened for cancer occurrence. Descriptive statics were performed where appropriate. Results:. Two hundred eighty-four prophylactic NSMs were performed on 228 patients with a median follow-up of 120.5 ± 15.7 months. Roughly, a third of patients had a known genetic mutation, with 21% BRCA1 and 12% BRCA2. The majority (73%) of prophylactic specimens had no abnormal pathology. The most commonly observed pathologies were atypical lobular hyperplasia (10%) and ductal carcinoma in situ (7%). Cancer was identified in 10% of specimens, with only one case of lymphovascular invasion. Thus far, there have been no incidences of locoregional breast cancer occurrence in this cohort. Conclusions:. The long-term breast cancer occurrence rate in this cohort of prophylactic NSM patients at the time of this study is negligible. Despite this, continued surveillance of these patients is necessary until lifetime risk of occurrence following NSM has been established.

BACKGROUND: Outcomes of robotic-assisted coronary artery bypass grafting in pregnant women have not been assessed. OBJECTIVE: This study aimed to understand the importance of minimally invasive robotic-assisted coronary artery bypass grafting in pregnant woman with coronary artery disease. We describe the case of a G3P1011 woman at 19+6 weeks’ gestation presenting with a non-ST myocardial infarction treated with off-pump hybrid robotic-assisted revascularization. STUDY DESIGN: This study describes the surgical approach for a pregnant woman presenting with non-ST myocardial infarction treated with hybrid robotic-assisted revascularization. RESULTS: A coronary angiography demonstrated a culprit lesion of 90% stenosis in the left anterior descending coronary artery and an 80% stenosis in the right coronary artery. Because of the high rate of complications with traditional coronary artery bypass grafting, the heart team opted for hybrid robotic-assisted revascularization and the postoperative recovery was uneventful. CONCLUSION: Robotic coronary artery bypass grafting can be the preferred surgical choice to decrease maternal and fetal mortality in patients undergoing coronary artery bypass grafting, and it is an important tool in the surgical armamentarium.

Introduction: Evidence supports the addition of immunotherapy to definitive chemoradiation for unresectable stage IIIA NSCLC. Adding pembrolizumab to neoadjuvant chemoradiation in patients with resectable stage IIIA NSCLC requires study for safety and feasibility. Methods: Patients with resectable stage IIIA NSCLC received neoadjuvant cisplatin, etoposide, and pembrolizumab concurrently with thoracic radiotherapy of 45 Gy in 25 fractions. Patients without progression underwent resection followed by 6 months of consolidation pembrolizumab. Safety and feasibility were defined as less than or equal to 30% grade 3 or higher pulmonary toxicity or any grade 4 or 5 nonhematologic toxicity. A total of 10 patients were to be enrolled initially. If less than or equal to two patients had events, another 10 were to be enrolled. Results: The study closed after enrolling nine patients. The median age was 66 (range: 49–76) years. A total of 67% were female. Median follow-up was 38.3 months. Serious adverse events occurred in seven patients, including two grade 5 events: one sudden cardiac arrest in the neoadjuvant phase and one fatal pneumocystis pneumonia after resection. Eight patients were assessable for response. The overall response rate was 67%. Six underwent complete resection. Four achieved pathologic complete response, whereas one additional patient had complete nodal clearance. Median progression-free survival has not been reached. The 3-year overall survival was 64%. Conclusions: Adding pembrolizumab to neoadjuvant concurrent cisplatin, etoposide, and radiotherapy in resectable stage IIIA NSCLC resulted in an encouraging pathologic complete response rate. Higher-than-expected toxicities necessitated trial closure after meeting the rule for infeasibility. The relationship of grade 5 events to the addition of pembrolizumab is unclear.

Takayasu arteritis is a rare large vessel vasculitis with an incidence of 1 to 3 per million. This disease typically involves the aorta and its primary branches but has been found to involve the coronary arteries in 7% to 9% of cases. We highlight the need for prompt diagnosis and treatment. (Level of Difficulty: Beginner.)

Background. Barriers to medication adherence may differ from barriers in other domains of adherence. In this study, we assessed the association between pre–kidney transplantation (KT) factors with nonadherent behaviors in 3 different domains post-KT. Methods. We conducted a prospective cohort study with patient interviews at initial KT evaluation (baseline—nonadherence predictors in sociodemographic, condition-related, health system, and patient-related psychosocial factors) and at ≈6 mo post-KT (adherence outcomes: medications, healthcare follow-up, and lifestyle behavior). All patients who underwent KT at our institution and had ≈6-mo follow-up interview were included in the study. We assessed nonadherence in 3 different domains using continuous composite measures derived from the Health Habit Survey. We built multiple linear and logistic regression models, adjusting for baseline characteristics, to predict adherence outcomes. Results. We included 173 participants. Black race (mean difference in adherence score: −0.72; 95% confidence interval [CI], −1.12 to −0.32) and higher income (mean difference: −0.34; 95% CI, −0.67 to −0.02) predicted lower medication adherence. Experience of racial discrimination predicted lower adherence (odds ratio, 0.31; 95% CI, 0.12–0.76) and having internal locus of control predicted better adherence (odds ratio, 1.46; 95% CI, 1.06–2.03) to healthcare follow-up. In the lifestyle domain, higher education (mean difference: 0.75; 95% CI, 0.21–1.29) and lower body mass index (mean difference: −0.08; 95% CI, −0.13 to −0.03) predicted better adherence to dietary recommendations, but no risk factors predicted exercise adherence. Conclusions. Different nonadherence behaviors may stem from different motivation and risk factors (eg, clinic nonattendance due to experiencing racial discrimination). Thus adherence intervention should be individualized to target at-risk population (eg, bias reduction training for medical staff to improve patient adherence to clinic visit).

Background. Reduced-size deceased donors and living donor liver transplantation (LDLT) can address the organ shortage for pediatric liver transplant candidates, but concerns regarding technical challenges and the risk of complications using these grafts have been raised. The aim of this study was to compare outcomes for pediatric LDLT and deceased donor liver transplantation (DDLT) via systematic review. Methods. A systematic literature search was performed to identify studies reporting outcomes of pediatric (

Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. Observations: A retrospective chart review of the patient's ocular and systemic findings and imaging results was performed. The patient had received genetic testing, including mutational analysis of targeted genes associated with retrolental masses. The patient had a comprehensive eye exam for bilateral leukocoria, demonstrating large retrolental masses, anterior polar cataracts, stretched ciliary processes, and roving eye movements. B-scan ultrasonography and magnetic resonance imaging indicated total, funnel-shaped retinal detachments, which is a unique retinal configuration in Norrie disease. Genetic testing confirmed deletion of the coding region of all three exons in the NDP gene, which confirmed Norrie disease. He has not shown any extraocular involvement to date. Conclusions and Importance: This is a case demonstrating the association between deletion of the coding region NDP gene and Norrie disease. The phenotypical variation of this disease warrants further studies of genotype-phenotype correlations and mutations of the NDP gene.

A 53-year-old female underwent dual-chamber pacemaker implantation for tachy-brady syndrome, which was complicated by anterior ST-segment elevation myocardial infarction and ventricular fibrillation due to right ventricular lead impingement on the left anterior descending coronary artery. Coronary artery injury is a rare complication of cardiac device implantation which requires a multidisciplinary team for management. (Level of Difficulty: Beginner.)

A patient with a history of coronary artery bypass graft presented with breathlessness and was found to have an 11 × 6 cm aneurysm in a distally occluded saphenous vein graft. This case describes the investigation, heart team discussion, and percutaneous closure of the aneurysm. (Level of Difficulty: Beginner.)

ABSTRACT: Objective: This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures. Methods: Case report and review of the literature. Results: A 52-year-old Caucasian female with idiopathic osteoporosis with recurrent fractures was identified with a heterozygous low-density lipoprotein receptor related protein 5 (LRP5) mutation. Conclusion: This case highlights the variability in clinical expression of LRP5 polymorphisms and suggests that standard treatment in cases of recurrent fracture may be ineffective.

ABSTRACT: Objective: Herein, we report a case of adrenal insufficiency due to bilateral adrenal metastases in which random serum cortisol was in the normal range. Methods: Case details and literature review. Results: A 68-year-old woman under treatment for ovarian cancer was referred for endocrine consultation because of bilateral adrenal metastases, weakness, and orthostatic symptoms. Biochemical evaluation found that despite normal levels of serum cortisol, she had primary adrenal insufficiency. A review of the literature found that normal levels of serum cortisol are typical in rare cases of adrenal insufficiency due to adrenal metastases. Conclusion: In cancer patients with bilateral adrenal metastases, cortisol production is enhanced and unregulated. In those rare cases when adrenal insufficiency is caused by bilateral adrenal metastases, serum cortisol may be normal, and accurate diagnosis requires further biochemical evaluation, including measurement of plasma adrenocorticotropic hormone (ACTH) and serum cortisol after infusion of synthetic ACTH.