Medical Center Research Articles

Diagnosis, treatment and management of lipodystrophy: the physician perspective on the patient journey

BackgroundLipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences and challenges faced by physicians who have seen and treated patients with lipodystrophy. This study aimed to provide a better understanding of the physician’s perspective regarding the patient journey in lipodystrophy, including diagnosis, the burden of disease, and treatment approaches.MethodsThirty-three physicians from six countries who had seen or treated patients with lipodystrophy were interviewed using a semi-structured questionnaire. Interviews were transcribed, anonymized, and analyzed for themes and trends. Four main themes were developed: (1) the diagnostic journey in lipodystrophy including the disease features or ‘triggers’ that result in the onward referral of patients to specialist medical centers with experience in managing lipodystrophy; (2) the impact of lipodystrophy on patient quality of life (QoL); (3) the use of standard therapies and leptin replacement therapy (metreleptin) in lipodystrophy, and (4) barriers to metreleptin use.ResultsParticipants reported that, due to their rarity and phenotypic heterogeneity, lipodystrophy cases are frequently unrecognized, leading to delays in diagnosis and medical intervention. Early consultation with multidisciplinary specialist medical teams was recommended for suspected lipodystrophy cases. The development and progression of metabolic complications were identified as key triggers for the referral of patients to specialist centers for follow-up care. Participants emphasized the impact of lipodystrophy on patient QoL, including effects on mental health and self-image. Although participants routinely used standard medical therapies to treat specific metabolic complications associated with lipodystrophy, it was acknowledged that metreleptin was typically required in patients with congenital generalized lipodystrophy and in some acquired generalized and partial lipodystrophy cases. A lack of experience among some participants and restrictions to access remained as barriers to metreleptin use.ConclusionsTo our knowledge, this is one of the first studies describing the qualitative experiences of physicians regarding the diagnosis and management of lipodystrophy. Other physician-centered studies may help increase the awareness of lipodystrophy among the wider medical community and support clinical approaches to this rare disease.

The Crucial Role of Academic Medical Centers in Preparing for the Future of Health AI

The Crucial Role of Academic Medical Centers in Preparing for the Future of Health AI

The Early On-treatment Stiffness Decline Attributed to the Improved Hepatic Inflammation in Fibrotic Chronic Hepatitis B.

Hepatic inflammation, the driver of fibrosis progression in liver disease, can impact the accuracy of liver stiffness measurement (LSM). We wondered whether the decline in LSM value during the early antiviral phase was mainly attributed to the control of hepatic inflammation or the regression of fibrosis in patients with fibrotic/cirrhotic chronic hepatitis B (CHB). The study cohort was composed of 82 patients with CHB who underwent antiviral and antifibrotic therapy at the Fifth Medical Center of PLA General Hospital. All patients had liver biopsies at both baseline and 72 weeks posttherapy. Liver pathology and clinical data, including the LSM value, were collected. After 72 weeks of treatment, both the histologic activity index score and fibrosis score, as well as the LSM value, were significantly decreased (P < 0.001), compared with their baseline values. The pretreatment correlation of LSM value with either histologic activity index score (r = 0.526 vs r = 0.286) or fibrosis score (r = 0.677 vs r = 0.587) was attenuated at 72 weeks. Notably, logistic regression analysis revealed that the improvement in inflammation (odds ratio = 1.018, 95% CI: 1.002-1.031, P = 0.023) but not fibrosis (odds ratio = 0.994, 95% CI: 0.980-1.009, P = 0.414), had an impact on the change in LSM values between baseline and at 72-week treatment. The findings of this study suggest that in patients with fibrotic CHB receiving antiviral medication, the early phase reduction in LSM value was related to improved hepatic inflammation rather than fibrosis regression.

Early detection of low QRS voltage and its association with mortality in patients with sepsis

Various electrocardiographic changes occur during sepsis, but data on the clinical importance of a low QRS voltage in sepsis are still limited. We aimed to evaluate the association between low QRS voltage identified early in sepsis and mortality in patients with sepsis. Between September 2019 and December 2020, all consecutive adult patients diagnosed with sepsis in the emergency room or general ward at Samsung Medical Center were enrolled. Patients without a 12-lead electrocardiogram recorded within 48 h of recognition of sepsis were excluded. In 432 eligible patients, 12-lead electrocardiogram was recorded within the median of 24 min from the first recognition of sepsis, and low QRS voltage was identified in 115 (26.6%) patients. The low QRS group showed more severe organ dysfunction and had higher levels of N-terminal pro-brain natriuretic peptide. The hospital mortality was significantly higher in the low QRS voltage group than in the normal QRS voltage group (49.6% vs. 28.1%, p < 0.001). Similarly, among the 160 patients who required intensive care unit admission, significantly more patients in the low QRS group died in the intensive care unit (35.9% vs. 18.2%, p = 0.021). Low QRS voltage was associated with increased hospital mortality in patients with sepsis.

A simple nonparametric least-squares-based causal inference for heterogeneous treatment effects

Estimating treatment effects is a common practice in making causal inferences. However, it is a challenging task for observational studies because the underlying models for outcome and treatment assignment are unknown. The concept of potential outcomes has been widely adopted in the literature on causal inferences. Building on potential outcomes, we propose a simple nonparametric least-squares spline-based causal inference method to estimate heterogeneous treatment effects in this manuscript. We use empirical process theory to study its asymptotic properties and conduct simulation studies to evaluate its operational characteristics. Based on the estimated heterogeneous treatment effects, we further estimate the average treatment effect and show the asymptotic normality of the estimator. Finally, we apply the proposed method to assess the biological anti-rheumatic treatment effect on children with newly onset juvenile idiopathic arthritis disease using electronic health records from a longitudinal study at Cincinnati Children's Hospital Medical Center.

Comparison of the Response to an Electronic Versus a Traditional Informed Consent Procedure in Terms of Clinical Patient Characteristics: Observational Study.

Electronic informed consent (eIC) is increasingly used in clinical research due to several benefits including increased enrollment and improved efficiency. Within a learning health care system, a pilot was conducted with an eIC for linking data from electronic health records with national registries, general practitioners, and other hospitals. We evaluated the eIC pilot by comparing the response to the eIC with the former traditional paper-based informed consent (IC). We assessed whether the use of eIC resulted in a different study population by comparing the clinical patient characteristics between the response categories of the eIC and former face-to-face IC procedure. All patients with increased cardiovascular risk visiting the University Medical Center Utrecht, the Netherlands, were eligible for the learning health care system. From November 2021 to August 2022, an eIC was piloted at the cardiology outpatient clinic. Prior to the pilot, a traditional face-to-face paper-based IC approach was used. Responses (ie, consent, no consent, or nonresponse) were assessed and compared between the eIC and face-to-face IC cohorts. Clinical characteristics of consenting and nonresponding patients were compared between and within the eIC and the face-to-face cohorts using multivariable regression analyses. A total of 2254 patients were included in the face-to-face IC cohort and 885 patients in the eIC cohort. Full consent was more often obtained in the eIC than in the face-to-face cohort (415/885, 46.9% vs 876/2254, 38.9%, respectively). Apart from lower mean hemoglobin in the full consent group of the eIC cohort (8.5 vs 8.8; P=.0021), the characteristics of the full consenting patients did not differ between the eIC and face-to-face IC cohorts. In the eIC cohort, only age differed between the full consent and the nonresponse group (median 60 vs 56; P=.0002, respectively), whereas in the face-to-face IC cohort, the full consent group seemed healthier (ie, higher hemoglobin, lower glycated hemoglobin [HbA1c], lower C-reactive protein levels) than the nonresponse group. More patients provided full consent using an eIC. In addition, the study population remained broadly similar. The face-to-face IC approach seemed to result in a healthier study population (ie, full consenting patients) than the patients without IC, while in the eIC cohort, the characteristics between consent groups were comparable. Thus, an eIC may lead to a better representation of the target population, increasing the generalizability of results.

SFlt-1/PlGF ratio predicts serious outcomes in confirmed early-onset preeclampsia

ObjectivesWe aimed to determine whether a high ratio of soluble fms-like tyrosine kinase-1 (sFlt-1) to placental growth factor (PlGF) would be associated with serious negative consequences and shorter pregnancy duration in cases of early-onset preeclampsia (PE). Study designThis retrospective cohort study included women (n = 65) diagnosed with PE at <34.0 weeks of gestation and recruited from a single primary and tertiary medical centre in Japan. The sFlt-1/PlGF ratio in the study participants was measured. To determine the optimal threshold for the sFlt-1/PlGF ratio, a receiver operating characteristic curve was employed, with the aim of predicting serious adverse outcomes within 1 week after serum angiogenic marker measurements. We performed Kaplan–Meier analysis and the log-rank test to assess delivery probability based on the sFlt-1/PlGF ratio. ResultsThirty-seven women (56.9 %) delivered within 1 week of serum angiogenic marker measurements due to the aggravation of early-onset preeclampsia. Women who developed serious adverse outcomes within 1 week had a significantly higher sFlt-1/PlGF ratio than that of women who did not develop serious complications (408.5 vs. 166.6, P < 0.001). A cut-off value of 224.6 for the sFlt-1/PlGF ratio predicted serious adverse outcomes, with a sensitivity of 81.1 % and a specificity of 71.4 % (area under the curve: 0.77). Moreover, 78.9 % of women with an sFlt-1/PlGF ratio ≥ 224.6 compared to 25.9 % of those with an sFlt-1/PlGF ratio < 224.6 delivered within 1 week of presentation (P < 0.001). ConclusionsWomen with confirmed early-onset preeclampsia and high sFlt-1/PlGF ratio are more likely to develop serious adverse outcomes within 1 week after serum angiogenic marker measurements.

A national survey of medication utilization for cardiac resuscitation in the emergency department: A survey of emergency medicine pharmacists.

In an effort to expedite the publication of articles, AJHP is posting manuscripts online as soon as possible after acceptance. Accepted manuscripts have been peer-reviewed and copyedited, but are posted online before technical formatting and author proofing. These manuscripts are not the final version of record and will be replaced with the final article (formatted per AJHP style and proofed by the authors) at a later time. Vasoactive medications are used during advanced cardiac life support (ACLS) to shunt oxygenated blood to vital organs and after return of spontaneous circulation (ROSC) to maintain hemodynamic goals. However, limited evidence exists to support vasoactive medication recommendations in such scenarios, and it is unknown how practices vary among emergency departments across the US. A survey questionnaire (15 questions) was electronically distributed to emergency medicine pharmacists (EMPs) in the US through various professional listservs. Demographic information, American Heart Association ACLS algorithm medication use, and use of continuous vasopressor infusions and adjunct medications following ROSC were assessed and are reported descriptively. The survey was distributed to 764 EMPs, with a 23% response rate from a wide geographic distribution and 48% of respondents practicing in academic medical centers. Epinephrine dosing and administration during cardiac arrest were reported by most to be in accordance with ACLS cardiac arrest algorithms. Calcium, magnesium sulfate, and sodium bicarbonate were the most common adjunct intravenous medications given during cardiac arrest. Norepinephrine was the first-choice vasopressor (81%) for post-ROSC hypotension, while epinephrine was preferred less frequently (17%). Antibiotics and sodium bicarbonate were the most frequently administered post-ROSC adjunct medications. This survey of a geographically diverse group of EMPs demonstrated high ACLS algorithm adherence for epinephrine during cardiac arrest with frequent additional administration of nonalgorithm medications. Sodium bicarbonate and calcium were the most frequently administered adjunct medications during cardiac arrest, while sodium bicarbonate and antibiotics were the most frequently used adjunct medications following ROSC. Norepinephrine was the most commonly used vasopressor following ROSC.

Prevalence and antimicrobial susceptibility patterns of bacteria colonizing the external ocular surfaces of patients undergoing ocular surgeries at Bugando Medical Center in Mwanza, Tanzania

ObjectiveUnderstanding microbiota colonizing ocular surfaces is key to expedite antibiotic prophylactic options for ocular surgeries, and therefore, prevent subsequent surgical site infections (SSIs). To fill this critical gap, we aimed at determining the prevalence and antibiotic susceptibility patterns of bacteria colonizing the external ocular surfaces of 224 patients undergoing ocular surgeries at Bugando Medical Centre (BMC) in Mwanza, Tanzania between May and August 2023.ResultsThe study participants had a median age of 62.5 (interquartile range: 39.5–75.0) years. A total of 78.1% (175/224) ocular swabs were culture positive yielding 196 bacterial isolates. Staphylococcus epidermidis [43.4% (n = 85)], Staphylococcus aureus [21.9% (n = 43)] and Pseudomonas aeruginosa [14.3% (n = 28)] were the most common bacteria. There were low proportions of resistance among predominant Gram-positive and Gram-negative bacteria to gentamicin (≤ 25.0%), and similarly, low resistance among Gram negative bacteria was observed against 3rd generation cephalosporins (≤ 25.0%) and piperacillin-tazobactam (0.0%). Variable resistance profiles were notable to the most commonly used antibiotics (ciprofloxacin and tetracycline: 0.0–66.7%). Our findings underscore an urgent need to revisit antibiotic prophylactic guidelines for ocular surgeries in this tertiary hospital, and calls for prospective evaluation of incident SSIs post-ocular surgeries to guide specific management.

Barriers and facilitators of habit building for long-term adherence to antihypertensive therapy among people with hypertensive disorders in Los Angeles, California: a qualitative study

ObjectivesThe aim of this study was to a) explore barriers and facilitators associated with medication-taking habit formation, and b) elicit feedback on the components of an intervention designed to help...

A Post-Implanto-Prosthetic Rehabilitation Study Regarding the Degree of Improvement in Patients’ Quality of Life: A Before–After Study

Background: Implant–prosthetic rehabilitation has the ability to improve the quality of life of patients, because, in addition to the role of restoring masticatory function, they also have many other benefits, such as restoring aesthetics or improving speech. This study aimed to analyze whether patients’ quality of life was improved by implanto-prosthetic rehabilitation and which were the most important aspects. Materials and Methods: In this before–after study, we applied the Oral Health Impact Profile (OHIP-14) questionnaire to analyze the degree to which complex implanto-prosthetic rehabilitation led or not to an increase in patients’ quality of life. The present study was carried out at the level of a private medical center in a city in the central region of Romania and included patients who visited this medical center between January and June 2022 and who benefited from a complex implanto-prosthetic rehabilitation, with the total number of patients eligible for inclusion in the study being 116. Results: Overall, an improvement in quality of life after implant-prosthetic rehabilitation was found. Patients’ gender, age, or educational level did not significantly influence their responses. The network analysis offered an overview (intuitive visual representation) of the similarities but also the differences in the OHIP-14 item relationships in both situations: before and after oral rehabilitation. Conclusions: A better understanding of how patients perceive implanto-prosthetic rehabilitation and the aspects that influence this perception can lead to an improvement in their quality of life, increasing the addressability of this type of medical procedure.

The History of the Neurosciences at the Albert Einstein Medical Center and Montefiore Medical Center-Science at the Heart of Medicine.

"Science at the heart of medicine," the ethos of the Albert Einstein College of Medicine and its university hospital, Montefiore Medical Center, has shaped the institution's legacy of pivotal contributions in the neurosciences. From its inception to the present day, the leaders of these institutions have epitomized the integration of clinical medicine, technical excellence, and multidisciplinary basic research. Over time these skills have become increasingly imperative for addressing neurological disorders and overcoming obstacles hindering progress in the field. This article aims to provide a summarized history of the work and achievements of these interdisciplinary surgical and scientific pioneers and departments, in the hopes of inspiring future generations of surgeons and physician scientists and documenting the institution's legacy in the neurosciences. Here we provide a summarized history of the life, work, and achievements of the physicians and scientists on which the institution's legacy in the neurosciences was built.

Adaptation of risk prediction equations for cardiovascular outcomes among patients with type 2 diabetes in real-world settings: a cross-institutional study using common data model approach

ObjectiveTo adapt risk prediction equations for myocardial infarction (MI), stroke, and heart failure (HF) among patients with type 2 diabetes in real-world settings using cross-institutional electronic health records (EHRs) in Taiwan.MethodsThe EHRs from two medical centers, National Cheng Kung University Hospital (NCKUH; 11,740 patients) and National Taiwan University Hospital (NTUH; 20,313 patients), were analyzed using the common data model approach. Risk equations for MI, stroke, and HF from UKPDS-OM2, RECODe, and CHIME models were adapted for external validation and recalibration. External validation was assessed by (1) discrimination, evaluated by the area under the receiver operating characteristic curve (AUROC) and (2) calibration, evaluated by calibration slopes and intercepts and the Greenwood–Nam–D’Agostino (GND) test. Recalibration was conducted for unsatisfactory calibration (p-value of GND test < 0.05) by adjusting the baseline hazards of original equations to address variations in patients’ cardiovascular risks across institutions.ResultsThe CHIME risk equations had acceptable discrimination (AUROC: 0.71–0.79) and better calibration than that for UKPDS-OM2 and RECODe, although the calibration remained unsatisfactory. After recalibration, the calibration slopes/intercepts of the CHIME-MI, CHIME-stroke, and CHIME-HF risk equations were 0.9848/− 0.0008, 1.1003/− 0.0046, and 0.9436/0.0063 in the NCKUH population and 1.1060/− 0.0011, 0.8714/0.0030, and 1.0476/− 0.0016 in the NTUH population, respectively. All the recalibrated risk equations showed satisfactory calibration (p-values of GND tests ≥ 0.05).ConclusionsWe provide valid risk prediction equations for MI, stroke, and HF outcomes in Taiwanese type 2 diabetes populations. A framework for adapting risk equations across institutions is also proposed.

The History of the Neurosciences at the Albert Einstein Medical Center and Montefiore Medical Center-Science at the Heart of Medicine.

"Science at the heart of medicine," the ethos of the Albert Einstein College of Medicine and its university hospital, Montefiore Medical Center, has shaped the institution's legacy of pivotal contributions in the neurosciences. From its inception to the present day, the leaders of these institutions have epitomized the integration of clinical medicine, technical excellence, and multidisciplinary basic research. Over time these skills have become increasingly imperative for addressing neurological disorders and overcoming obstacles hindering progress in the field. This article aims to provide a summarized history of the work and achievements of these interdisciplinary surgical and scientific pioneers and departments, in the hopes of inspiring future generations of surgeons and physician scientists and documenting the institution's legacy in the neurosciences. Here we provide a summarized history of the life, work, and achievements of the physicians and scientists on which the institution's legacy in the neurosciences was built.

Drug utilization pattern of romosozumab and other osteoporosis treatments in Japan, 2019-2021.

Describe real-world treatment of osteoporosis and romosozumab treatment patterns in Japan. Data for patients initiating romosozumab or other antiosteoporotic medications between March 01, 2018, and May 31, 2022, were extracted from the Medical Data Vision (MDV) and Japan Medical Data Center (JMDC) databases. Patients were categorized into four cohorts: those who newly initiated romosozumab within the first (MDV: n = 4782; JMDC: n = 2578) or second (MDV: n = 3888; JMDC: n = 2446) year after launch and those who initiated teriparatide (TPTD; MDV: n = 14,576; JMDC: n = 8259) or non-TPTD antiosteoporotic medications within the first year of romosozumab launch (MDV: n = 352,142; JMDC: n = 185,785). Mean age, sex, baseline cardiovascular history, comorbidities, and concomitant medications were similar across cohorts. In the MDV database, fracture history was higher in the romosozumab year-1 (59.3%), year-2 (64.1%), and TPTD (65.5%) cohorts versus the non-TPTD cohort (24.4%). Similar rates were identified in the JMDC database: romosozumab year-1 (64.7%), year-2 (66.6%), TPTD (67.5%), and non-TPTD (27.8%). Vertebral fractures were most common in all cohorts. 12-month romosozumab discontinuation varied between the year-1 and year-2 cohorts in MDV (62.4% and 58.8%) and JMDC (57.1% and 52.7%), whereas mean number of injections remained consistent (MDV: 9.7 and 9.8; JMDC: 7.3 and 7.8). Romosozumab persistence was lower in year-1 versus year-2 (MDV: 37.6% and 42.9%; JMDC: 41.2% and 47.3%). Patients initiating romosozumab and TPTD had a high fracture history. Given the dual effects of promoting bone formation and suppressing resorption, improving romosozumab adherence and persistence over time may be important for antiosteoporotic therapy.

Heterogeneity in Antidepressant Treatment and Major Depressive Disorder Outcomes Among Clinicians

While abundant work has examined patient-level differences in antidepressant treatment outcomes, little is known about the extent of clinician-level differences. Understanding these differences may be important in the development of risk models, precision treatment strategies, and more efficient systems of care. To characterize differences between outpatient clinicians in treatment selection and outcomes for their patients diagnosed with major depressive disorder across academic medical centers, community hospitals, and affiliated clinics. This was a longitudinal cohort study using data derived from electronic health records at 2 large academic medical centers and 6 community hospitals, and their affiliated outpatient networks, in eastern Massachusetts. Participants were deidentified clinicians who billed at least 10 International Classification of Diseases, Ninth Revision (ICD-9) or Tenth Revision (ICD-10) diagnoses of major depressive disorder per year between 2008 and 2022. Data analysis occurred between September 2023 and January 2024. Heterogeneity of prescribing, defined as the number of distinct antidepressants accounting for 75% of prescriptions by a given clinician; proportion of patients who did not return for follow-up after an index prescription; and proportion of patients receiving stable, ongoing antidepressant treatment. Among 11 934 clinicians treating major depressive disorder, unsupervised learning identified 10 distinct clusters on the basis of ICD codes, corresponding to outpatient psychiatry as well as oncology, obstetrics, and primary care. Between these clusters, substantial variability was identified in the proportion of selective serotonin reuptake inhibitors, selective norepinephrine reuptake inhibitors, and tricyclic antidepressants prescribed, as well as in the number of distinct antidepressants prescribed. Variability was also detected between clinician clusters in loss to follow-up and achievement of stable treatment, with the former ranging from 27% to 69% and the latter from 22% to 42%. Clinician clusters were significantly associated with treatment outcomes. Groups of clinicians treating individuals diagnosed with major depressive disorder exhibit marked differences in prescribing patterns as well as longitudinal patient outcomes defined by electronic health records. Incorporating these group identifiers yielded similar prediction to more complex models incorporating individual codes, suggesting the importance of considering treatment context in efforts at risk stratification.

Hospital outcomes of acute COVID-19 infection among patients with neurological conditions: a single-center study

BackgroundCoronavirus disease 2019 (COVID-19) infection has been associated with severe neurological consequences, including stroke or seizures, and less severe neurological sequelae, including headaches, dizziness, and anosmia. Earlier COVID-19 variants were associated with high morbidity and mortality; however, knowledge of the impact of neurological conditions in the setting of COVID-19 on healthcare outcomes is limited. We sought to determine the impact of acute neurological conditions and acute COVID-19 infection on inpatient hospitalization outcomes.MethodsThis was a retrospective, observational study of adult patients who were admitted to a large academic medical center in the Southeastern US between April 2020 and December 2021 with acute COVID-19 infection and a neurological diagnosis. Patient demographics, medical history, neurological diagnoses, and hospitalization outcomes were obtained from the medical record. Descriptive statistics and unadjusted and adjusted logistic regression analyses were performed.ResultsOf the 1,387 patients included in this study, 27% died and 23% were kept under ventilation during hospitalization. The mean +/− standard deviation (SD) age was 64.6+/−16.9 years, with 52.8% women and 30.1% identifying as Black/African American. The most common neurological conditions included ischemic stroke (35.0%), movement disorder (12.0%), and hemorrhagic stroke (10.7%). In-hospital death was most common among those with epilepsy (p = 0.024), headache (p = 0.026), and dementia (p &amp;lt; 0.0001) compared to individuals without those conditions. Ventilation support was given more commonly to dementia patients (p = 0.020). Age was a significant risk factor for death (p &amp;lt; 0.001) and hospital length of stay (LOS) for ventilation (p &amp;lt; 0.001), but no neurological condition was a significant factor in adjusted logistic regression analyses.DiscussionMortality was high in this study, with more than one-quarter of patients dying in the hospital. Death was the most common among those with epilepsy, headache, or dementia, but no neurological condition increased the risk of in-hospital mortality or ventilation. Future studies would determine the long-term neurological sequelae of those discharged from the hospital with COVID-19 and a neurological condition.

Clinical phenotype and genetic analysis of a child with Intellectual developmental disorder and epilepsy due to variant of CLTC gene

To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy. A child who was admitted to the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3). The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.

Compassionate care through the eyes of patients and physicians: An interview study.

Although compassion is a crucial element of physicians' professional performance and high-quality care, research shows it often remains an unmet need of patients. Understanding patients' and physicians' perspectives on compassionate care may provide insights that can be used to foster physicians' ability to respond to patients' compassion needs. Therefore, this study aims to understand how both patients and physicians experience the concept and practice of compassionate care. We conducted semi-structured interviews with eight patients and ten resident physicians at a University Medical Center in the Netherlands. Using thematic analysis, we separately coded patient and resident transcripts to identify themes capturing their experiences of compassionate care. This study was part of a larger project to develop an educational intervention to improve compassion in residents. For both patients and residents, we identified four themes encompassing compassionate care: being there, empathizing, actions to relieve patients' suffering, and connection. For residents, a fifth theme was professional fulfillment (resulting from compassionate care). Although patients and residents both emphasized the importance of compassionate care, patients did not always perceive the physician-patient encounter as compassionate. According to residents, high workloads and time pressures hindered their ability to provide compassionate care. Patients and residents have similar and varying understandings of compassionate care at the same time. Understanding these differences can aid compassion in medical practice. Based on the findings, three topics are suggested to improve compassion in residents: (1) train residents how to ask for patients' compassion needs, (2) address residents' limiting beliefs about the concept and practice of compassion, and (3) acknowledge the art and science of medicine cannot be separated.

Implementation of an Approach to Equitable Allocation of SARS-CoV-2 Monoclonal Antibodies for Pre-Exposure Prophylaxis: Experience from a Single Medical Center

Abstract Background During the COVID-19 pandemic, SARS-CoV-2 monoclonal antibodies for pre-exposure prophylaxis (SMA-PrEP) offered immunocompromised patients another option for protection. However, SMA-PrEP also posed administrative, operational, and ethical challenges for healthcare facilities, resulting in few patients receiving them. Although the first SMA-PrEP medication, tixagevimab and cilgavimab, had its authorization revoked due to compromised in vitro efficacy, new SMA-PrEP medications are currently completing clinical trials. This article provides an operational framework for administrative organization, patient identification and prioritization, equitable medication allocation, medication ordering and administration, and patient tracking. Methods A retrospective cohort study evaluating our hospital’s SMA-PrEP administration strategy was performed. Multivariable logistic regression was used to examine factors associated with receipt of SMA-PrEP. Results Despite the barriers in administering this medication and scarcity of resources, our hospital was able to administer at least one dose of SMA-PrEP to 1359 of 5902 (23.0%) eligible patients. Even with the steps taken to promote equitable allocation, multivariable logistic regression demonstrated that there were still differences by race, ethnicity, and socioeconomic status. Compared to patients who identified as Black, patients who identified as White (odds ratio [OR] 1.85, 95% confidence interval [CI] 1.46-2.33), Asian (OR 1.59, 95% CI 1.03-2.46), and Hispanic (OR 1.53, 95% CI 1.02-2.44) were more likely to receive SMA-PrEP. Compared to patients with low socioeconomic status, patients with high socioeconomic status (OR 1.37, 95% CI 1.05-1.78) were more likely to be allocated SMA-PrEP. Conclusions Despite efforts to mitigate healthcare disparities, differences by race/ethnicity and socioeconomic status still arose in patients receiving SMA-PrEP.