Division Of Medicine Research Articles

Core stories of physicians on a Swiss internal medicine ward during the first COVID-19 wave: a qualitative exploration.

The first COVID-19 wave (2020), W1, will remain extraordinary due to its novelty and the uncertainty on how to handle the pandemic. To understand what physicians went through, we collected narratives of frontline physicians working in a Swiss university hospital during W1. Physicians in the Division of Internal Medicine of Lausanne University Hospital (CHUV) were invited to send anonymous narratives to an online platform, between 28 April and 30 June 2020. The analysed material consisted of 13 written texts and one audio record. They were examined by means of a narrative analysis based on a holistic content approach, attempting to identify narrative highlights, referred to asfoci, in the texts. Five main foci were identified: danger and threats, acquisition of knowledge and practices, adaptation to a changing context, commitment to the profession, and sense of belonging to the medical staff. In physicians' narratives,dangerdesignated a variety of rather negative feelings and emotions, whereasthreatswere experienced as being dangerous for others, but also for oneself. Theacquisition of knowledge and practicesfocus referred to the different types of acquisition that took place during W1. The narratives that focused onadaptationreflected how physicians coped with W1 and private or professional upheavals. COVID-19 W1 contributed to revealing a naturalcommitment(or not) of physicians towards the profession and patients, accompanied by the concern of offering the best possible care to all. Lastly,sense of belongingreferred to the team and its reconfiguration during W1. Our study deepens the understanding of how physicians experienced the pandemic both in their professional and personal settings. It offers insights into how they prepared and reacted to a pandemic. The foci reflect topics that are inherent to a physician's profession, whatever the context. During a pandemic, these foundational elements are particularly challenged. Strikingly, these topics are not studied in medical school, thus raising the general question of how students are prepared for the medical profession.

Maternal and fetal arrhythmia as a sign of hemodynamic deterioration: a case report

The co-existing maternal (MA) and fetal arrythmia (FA) are associated with maternal goiter disease, chorioamnionitis, or Ballantyne’s syndrome. The aim of the study - to determine the involvement of maternal arrhythmia and fetal arrhythmia in the pathogenic scenario of hemodynamic deterioration in Ballantyne’s syndrome. Clinical case. It is presented the case of sustained several weeks of MA and FA. A pregnant woman aged 36 years was admitted to the division of maternal and fetal medicine at 34 weeks of gestation. She was gravida 4 and para 3. She had complaints of rapid heartbeat, left-side chest discomfort, and lower extremities edema. The diagnosis of maternal sinus tachycardia was supported via electrocardiography. The indices of fetal, umbilical, and uteroplacental hemodynamics detected via Doppler ultrasound were appropriate. However, fetal heart rate was 209 beats/min. The transplacental attack of oral sotalol 80 mg thrice daily was prescribed. But maternal and fetal tachycardia persisted to stay. The tricuspid regurgitation was detected via Doppler ultrasound next day. The fetus was hydropic. The male baby of 2400 g, 46 cm length, 31 cm head circumference, and Apgar score 3→5 was delivered via caesarean. The newborn was discharged in 21 days. He was admitted again in one month for rehabilitation. Maternal heart rate reduced to 72 beats/min and edema regressed in three days after birth. Conclusions. MA and FA before fetal hydrops are supposed to be the early signs of mirror syndrome. This speculation needs further investigation. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

Baseball Injury Prevention Through a Community Outreach Initiative.

Sports-related craniofacial injuries account for 10% to 42% of facial fractures in the US pediatric population, with the incidence of injury peaking at ages 6 to 7 and 12 to 14. The National Survey of Children's Health reported ~5.6 million children between the ages of 6 and 17 participated in baseball in 2021. National Electronic Injury Surveillance System reported 861,456 injuries resulting from baseball and 511,117 injuries resulting from softball in 2021, with ~500,000 of those injuries being to the face/head/neck. While participation in baseball and other youth sports has tremendous physical and mental health benefits, facial and other athletic injuries are concerning beyond the pain and disability caused by the incident itself. Severe injury can result in lost time from school as well as other social activities. Players and their families often experience financial strain as a result of physical trauma as well. The use of protective equipment has decreased the incidence of emergency department visits due to baseball-related trauma, especially mouthguards. However, adherence to using mouthguards is relatively low in baseball, with over 80% of players reporting not being told by a coach to wear mouthpieces. Youth from low-income areas often lack financial means to provide protective equipment and health insurance in the case of injury. The authors, along with the University of Miami Miller School of Medicine Division of Plastic and Reconstructive Surgery and Miami Marlins RBI Program, created an outreach program by which over 400 mouthguards were given to players and caretakers at inner-city baseball and softball programs. Two community outreach events took place in South Florida. One event was held at a University of Miami Men's Baseball Game, and another was held on the opening day of the Miami Marlins RBI Program youth baseball league. In addition to handing out protective equipment and informational pamphlets, a question and answers session was held to discuss injury prevention. In conclusion, our community safety initiative created an interactive dialogue and message to hundreds of youth baseball players about the importance of protective gear to prevent injuries.

Respiratory exchange ratio overshoot during exercise recovery: a promising prognostic marker in HFrEF.

Transient increases (overshoot) in respiratory gas analyses have been observed during exercise recovery, but their clinical significance is not clearly understood. An overshoot phenomenon of the respiratory exchange ratio (RER) is commonly observed during recovery from maximal cardiopulmonary exercise testing (CPET), but it has been found reduced in patients with heart failure with reduced ejection fraction (HFrEF). The aim of the study was to analyze the clinical significance of these RER recovery parameters and to understand if these may improve the risk stratification of patients with HFrEF. This cross-sectional study includes HFrEF patients who underwent functional evaluation with maximal CPET for the heart transplant checklist at our Sports and Exercise Medicine Division. RER recovery parameters, including RER overshoot as the percentual increase of RER during recovery (RER mag), have been evaluated after CPET with assessment of hard clinical long-term endpoints (MACEs/deaths and transplant/LVAD-free survival). A total of 190 patients with HFrEF and 103 controls were included (54.6 ± 11.9years; 73% male). RER recovery parameters were significantly lower in patients with HFrEF compared to healthy subjects (RER mag 24.8 ± 14.5% vs 31.4 ± 13.0%), and they showed significant correlations with prognostically relevant CPET parameters. Thirty-three patients with HFrEF did not present a RER overshoot, showing worse cardiorespiratory fitness and efficiency when compared with those patients who showed a detectable overshoot (VO2 peak: 11.0 ± 3.1 vs 15.9 ± 5.1ml/kg/min; VE/VCO2 slope: 41.5 ± 8.7 vs 32.9 ± 7.9; ΔPETCO2: 2.75 ± 1.83 vs 4.45 ± 2.69mmHg, respectively). The presence of RER overshoot was associated with a lower risk of cardiovascular events and longer transplant-free survival. RER overshoot represents a meaningful cardiorespiratory index to monitor during exercise gas exchange evaluation; it is an easily detectable parameter that could support clinicians to comprehensively interpreting patients' functional impairment and prognosis. CPET recovery analyses should be implemented in the clinical decision-making of advanced HF.

Judge rules against former employee

Case name: Haynie v. Washington University School of Medicine Division of Infectious Diseases, No. 4:22CV672 (E.D. Mo. 10/18/23).

Physical management in algodystrophy syndrome

Aim: Complex regional pain syndrome (CRPS) is characterised by chronic pain, swelling, and vasomotor dysfunction. The disorder often gradually leads to muscle dystrophy, bone defects, and decreased limb function. The etiology of this condition has not been fully established. Aim. To analyse the physical therapy in CRPS patients treated at the Division of Physical Medicine of the Department of Rehabilitation in 2012-2022. Materials and Methods: The study involved a group of 58 patients after distal epiphyseal fractures of the forearm and crus. Testing concerned the following: hand or foot skin temperature, hand grip strength, pain intensity, bone radiographs, and psychosomatic profile according to Zung’s scale. Physical therapy included whirlpool massage, lidocaine and calcium iontophoresis, variable low frequency magnetic fields, and kinesiotherapy. Results: After 6-week treatment, we achieved full clinical improvement in 82% of the patients and partial improvement in 18% (these were patients in whom the treatment was introduced at an advanced stage of the disorder). Conclusions: 1. Complex regional pain syndrome is a difficult clinical problem. 2. Early diagnosis and introduction of focused physical therapy allow for full restoration of limb function.

Assessment of The Impact of Quality of Canal Obturation, Coronal and Apical Seal on The Healing Of CBCT-Diagnosed Periapical Lesions in Endodontically Treated Teeth in Sri Lanka

Background: Previous literature has investigated the association between the attribute of coronal restoration and root canal obturation with the radiographic periapical status of endodontically treated teeth. Objectives: This study intends to assess the status of periapical lesions/pathology and, the main factors influencing the healing of periapical lesions of root canal-treated teeth clinically and radiographically exploiting CBCT. The quality of coronal restoration, canal obturation, and apical seal were selected to be assessed, as they have a greater impact on healing peri apical pathology. Method: This analysis was conducted at the Department of Restorative Dentistry and the Division of Oral Medicine and Radiology, Faculty of Dental Sciences, University of Peradeniya, Sri Lanka. All the patients who presented between January 2020 and January 2021, had root canal treatment done at least one year prior, were referred for CBCT assessment for some other conditions, and fulfilled the inclusion criteria, were selected. Root canal-treated teeth were recognized by radio-opaque filling material inside the canals in any anterior or posterior teeth. Results: A sum of 50 CBCT reports from 50 patients was encompassed in the dissertation. Median age was 26 (±4) years, with 37.5% of reports belonging to males. Statistical analysis was performed utilizing Statistical Package for Social Sciences (SPSS) version 20.0 software (IBM Corp). Out of fifty patients, 32 had been found to have adequate clinical coronal seal while 31 have been found to have adequate radiographical coronal seal. Further, 31 patients were found to have insufficient obturation and 28 were found to have adequate apical seal. A significant association was observed between periapical healing and adequate coronal restoration in root-filled teeth (p=0.048). However, the association between the healing of the periapical region, and adequate root canal obturation (p=0.09) and adequate apical seal (p=0.777) were found to be non-significant. Conclusion: The most influential factor for the healing of periapical lesions in endodontically treated teeth appears to be adequate coronal restoration, compared to root canal obturation and apical seal, in a cohort of patients in Sri Lanka

Prevalence of Critical Errors and Insufficient Peak Inspiratory Flow in Patients Hospitalized with COPD in a Department of General Internal Medicine: A Cross-Sectional Study.

The suboptimal use of inhalers in the treatment of patients with chronic obstructive pulmonary disease (COPD) is probably a major but poorly documented problem in hospitalized patients. We aimed to describe the prevalence of misused inhalers among patients hospitalized with COPD in a department of general internal medicine. We conducted a monocentric cross-sectional study in consecutive patients with a diagnosis of COPD and hospitalized between August 2022 and April 2023 in the internal medicine division of Fribourg Hospital, Switzerland. Patients underwent an assessment of their inhaler technique and peak inspiratory flow (PIF) using the In-Check Dial G16®. The primary outcome was the prevalence of misused inhalers, defined as an inhaler used with a critical error and/or insufficient PIF. Secondary outcomes included the prevalence of inhalers unsuitable to patients' characteristics and of patients using at least one misused inhaler. The study included 96 patients and 160 inhalers were assessed at admission. Among these inhalers, 111 (69.4%; 95% confidence interval [CI] 61.6-76.4) were misused; 105 (65.6%; 95% CI 57.7-72.9) due to the presence of a critical error in the inhalation technique and 22 (13.8%; 95% CI 8.8-20.1) due to insufficient PIF. Concerning the secondary outcome, 27 inhalers (16.9%) were unsuitable, and 79 patients (82.3%) used at least one misused inhaler. Among patients hospitalized with a diagnosis of COPD, two-thirds of inhalers were misused. Suboptimal use was mainly due to the presence of critical errors, but also to the presence of an insufficient PIF and unsuitable inhalers.

Risk Factors of Onset Time and Persistence of Atopic Dermatitis in Children Under Age 5 Years: A Cross-Sectional Study.

Background: The prevalence of atopic dermatitis (AD) is high among children, with development of AD occurring during early childhood in most affected children and some having a chronic disease course. Risk factors for AD in this group remain undefined. Objectives: We analyzed the medical records of children with AD under 5 years of age. We summarized characteristics of the natural course of AD in these children and explored relevant risk factors of AD in infancy and early childhood. Methods: Using a self-developed questionnaire, we investigated 716 children under 5 years of age who were treated for AD at the Dermatology Department of the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China. We conducted the study from October 2021 to September 2022 using telephone and on-site interviews with the children's parents. In parental interviews, data were gathered on neonatal diseases, comorbidities, parental allergy history, maternal history of tobacco and alcohol use, and basic infant information at birth. Some children were tested for serum total immunoglobulin E (IgE) before this study. Results: Neonatal hyperbilirubinemia, neonatal respiratory distress syndrome (NRDS), neonatal infection, and infection during childhood had a significant impact on persistent symptoms and the onset of first symptoms in children with AD (P < 0.05). Allergic diseases as common comorbidities with AD, which had earlier onset of AD related to more obvious disease activity (P < 0.05). Parental history of allergy was also significant in AD (P < 0.05). Serum total iIgE levels in children with AD showed an impact on the clinical course of AD; neonatal hyperbilirubinemia and NRDS may affect IgE levels (P < 0.05). Persistent AD had a significant effect on the physical growth of children with height/length for age Z score ≤3 and weight for height/length Z score ≤3 (P < 0.05). Conclusions: Early adverse events in infants, infection before onset, and susceptibility to infection may affect the onset and clinical course of childhood AD. Serum total IgE levels affect the progression of AD. Persistent AD in childhood may have a slight impact on children's physical growth.

ANTIOXIDANT EFFECT OF MOUTHWASH CONTAINING ZINC, ALOE VERA, AND STABILIZED CHLORINE DIOXIDE FOR ORAL MANIFESTATION OF ACUTE MYELOBLASTIC LEUKEMIA (AML)

Objective: This paper aims to report a study regarding the successful treatment using zinc, Aloe vera, and stabilized chlorine dioxide as an antioxidant mouthwash in a patient with AML.&#x0D; Methods: A series of clinical examinations, including subjective and objective examinations, were done to establish the diagnosis.&#x0D; Results: A 9 y old boy, who was already diagnosed with AML, referred to the oral medicine division because of the hemorrhagic crust of his lips. The extra-oral examination showed severe hemorrhagic crust and erosions on the upper and lower lips. The intra-oral examination could not be evaluated in detail, but the active bleeding was seen. A hematology investigation showed pancytopenia. Patients received packed red cell (PRC) and thrombocyte concentrate (TC) blood transfusions, as well as an antioxidant mouthwash containing zinc, Aloe vera, and stabilized chlorine dioxide, for compressing the lips every 1-2 h with a duration of 30 min. Significant improvement in lip lesions was gained in a short time after blood transfusions and regular use of the mouthwash compresses.&#x0D; Conclusion: In this study, the mouthwash containing zinc, Aloe vera, and stabilized chlorine dioxide that can accelerate the healing process in our AML patient was estimated due to its antioxidant effects.

1223. Utilizing Multiple Antimicrobial Stewardship Metrics to Trend Vancomycin Use in an Implementation Study

Abstract Background Inpatient IV vancomycin use is often inappropriately prolonged. Methicillin-resistant Staphylococcus aureus (MRSA) polymerase chain reaction (PCR) nares swabs have shown high negative predictive values for many infections and can guide appropriate vancomycin de-escalation. Antibiotic stewardship programs (ASPs) often monitor vancomycin use in days of therapy (DoT) per 1000 patient days present (PDP). This measure can be affected, especially for smaller facilities, by changes in bed capacity and prolonged stays and thus may not accurately reflect vancomycin use. We evaluated whether alternative metrics of vancomycin use would show different impacts during a multi-step ASP intervention to reduce inappropriate vancomycin use at Veterans Affairs Tennessee Valley Healthcare System. Figure 1 Run chart of vancomycin DoT/1000 PDP at the Tennessee Valley Healthcare System (TVHS) in two years prior to intervention. Methods In September 2021, the ASP, with multiple stakeholders, initiated use of MRSA nasal swabs to inform vancomycin de-escalation. From 7/2022 to 3/2023, we performed iterative Plan-Do-Study-Act intervention cycles including educating medicine and surgical divisions on MRSA swab result interpretation, educating nurses on timely swab collection, replacing MRSA culture swabs with PCR swabs, and adding MRSA swab orders to vancomycin order sets. In April 2022, in addition to DoT/1000 PDP, we began measuring mean, median, and mode DoT per vancomycin course initiated by start week. Results Despite multiple interventions beginning July 2022, vancomycin use in DoT/1000 PDP increased to a peak of 106 DoT/1000 PDP in September 2022. In that same period, median and mode DoT per vancomycin initiation remained steady at 2 days and 1 day, respectively. Figure 2 Run chart of vancomycin DoT/1000 PDP at the TVHS from April 2022 to March 2023. Specific ASP interventions are annotated on the dates they occur. Figure 3 Run chart of mean, median, and mode days of vancomycin therapy per vancomycin course initiated at the TVHS from April 2022 to March 2023. Specific ASP interventions are annotated on the dates they occur. Conclusion DoT/1000 PDP may not be the best metric to evaluate efforts to reduce inappropriate vancomycin use. By tracking mean, median, and mode of DoT per individual vancomycin course, we determined that most providers already practice rapid de-escalation, minimizing patient vancomycin exposure. This method also allows us to quickly detect changes in prescribing patterns and determine whether interventions were warranted. More evaluation of antibiotic use metric appropriateness based on desired outcome is needed in ASPs. Disclosures Milner Staub, MD, MPH, Gilead: Stocks/Bonds|Johnson &amp; Johnson: Stocks/Bonds

Physician- and Patient-Elicited Barriers and Facilitators to Implementation of a Machine Learning-Based Screening Tool for Peripheral Arterial Disease: Preimplementation Study With Physician and Patient Stakeholders.

Peripheral arterial disease (PAD) is underdiagnosed, partially due to a high prevalence of atypical symptoms and a lack of physician and patient awareness. Implementing clinical decision support tools powered by machine learning algorithms may help physicians identify high-risk patients for diagnostic workup. This study aims to evaluate barriers and facilitators to the implementation of a novel machine learning-based screening tool for PAD among physician and patient stakeholders using the Consolidated Framework for Implementation Research (CFIR). We performed semistructured interviews with physicians and patients from the Stanford University Department of Primary Care and Population Health, Division of Cardiology, and Division of Vascular Medicine. Participants answered questions regarding their perceptions toward machine learning and clinical decision support for PAD detection. Rapid thematic analysis was performed using templates incorporating codes from CFIR constructs. A total of 12 physicians (6 primary care physicians and 6 cardiovascular specialists) and 14 patients were interviewed. Barriers to implementation arose from 6 CFIR constructs: complexity, evidence strength and quality, relative priority, external policies and incentives, knowledge and beliefs about intervention, and individual identification with the organization. Facilitators arose from 5 CFIR constructs: intervention source, relative advantage, learning climate, patient needs and resources, and knowledge and beliefs about intervention. Physicians felt that a machine learning-powered diagnostic tool for PAD would improve patient care but cited limited time and authority in asking patients to undergo additional screening procedures. Patients were interested in having their physicians use this tool but raised concerns about such technologies replacing human decision-making. Patient- and physician-reported barriers toward the implementation of a machine learning-powered PAD diagnostic tool followed four interdependent themes: (1) low familiarity or urgency in detecting PAD; (2) concerns regarding the reliability of machine learning; (3) differential perceptions of responsibility for PAD care among primary care versus specialty physicians; and (4) patient preference for physicians to remain primary interpreters of health care data. Facilitators followed two interdependent themes: (1) enthusiasm for clinical use of the predictive model and (2) willingness to incorporate machine learning into clinical care. Implementation of machine learning-powered diagnostic tools for PAD should leverage provider support while simultaneously educating stakeholders on the importance of early PAD diagnosis. High predictive validity is necessary for machine learning models but not sufficient for implementation.

Performance of serum soluble interleukin-2 receptor as a diagnostic marker for lymphoma in patients with fever

There have been few reports on the diagnostic performance of soluble interleukin-2 receptor (sIL-2R) for lymphoma. A cross-sectional study was conducted at a university hospital; all patients who were admitted to the Division of General Internal Medicine and underwent serum sIL-2R testing were included. Patients were divided into two groups based on the presence of fever (≥ 38.0 °C). Among 602 patients, 421 had fever and 76 were diagnosed with lymphoma (48 of the 76 were in the febrile group). In all patients, the area under the receiver operating characteristic curve (AUROC) of sIL-2R for the diagnosis of lymphoma was 0.81 [95% confidence interval (CI), 0.75–0.87]. The AUROC was significantly higher in the febrile group (0.88; 95% CI, 0.81–0.94) than in the afebrile group (0.75; 95% CI, 0.65–0.85). In the febrile group, the sensitivity and specificity were 81.2% and 82.3%, respectively, with an optimal cutoff value of 3,250 U/mL. In the afebrile group, they were 89.3% and 54.9%, respectively, with a cutoff value of 868 U/mL. Serum sIL-2R showed high performance as an adjunctive diagnostic marker for lymphoma, particularly among febrile patients. Different cutoff values should be used for patients with and without fever to maximize diagnostic performance.

A survey of the current status of neonatal disseminated intravascular coagulation in neonatal intensive care units in Kyushu, Japan

Neonatal disseminated intravascular coagulation (DIC) is a rare disease with a poor outcome. However, data on the incidence, treatment, and outcome of neonatal DIC are scarce. Thus, this study investigated the status of neonatal DIC in Japan. We sent a retrospective questionnaire-based survey regarding the status of diagnosis and treatment of neonatal DIC from January 1, 2016, to December 31, 2018, to 30 hospitals in Kyushu with a neonatal-perinatal medicine division. The data collected by the questionnaire survey included information about the patients diagnosed with neonatal DIC. Among the 13,582 neonates surveyed, 120 (0.9%) were diagnosed with DIC. Of them, clinical data were available for 105 cases. There were 11 deaths (mortality rate: 10.4%), with the most common underlying condition being infection (n=9), followed by neonatal asphyxia and hematologic disease (both, n=1). Compared with the survival group, the death group had more infections, as well as a higher rate of bleeding symptoms and organ dysfunction. Neonatal DIC associated with infectious diseases has a poor outcome. Therefore, it is necessary to formulate diagnostic and treatment guidelines for early intervention in such cases.

SAT080 Partnering With Medical Genetics To Provide Molecular Diagnosis In Atypical Diabetes

Abstract Disclosure: M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. C. Chase: None. M. Henry: None. A. Neidert: None. G. Narla: Advisory Board Member; Self; HERA Biolabs. Consulting Fee; Self; RAPPTA Therapeutics. Owner/Co-Owner; Self; RAPPTA Therapeutics. W. Uhlmann: None. K. Lee: None. E.A. Oral: Consulting Fee; Self; Regeneron Pharmaceuticals, Aegerion Pharmaceuticals, Ionis Pharmaceuticals Inc., Third Rock Ventures, Rejuvenate Inc. Grant Recipient; Self; Regeneron Pharmaceuticals, Aegerion Pharmaceuticals, Ionis Pharmaceuticals Inc., Novo Nordisk, Fractyl Laboratories, Rhythm Pharmaceuticals, GID Dynamics. Other; Self; Aegerion Pharmaceuticals. Uncovering genetic alterations causing rare and atypical phenotypes related to diabetes mellitus is becoming increasingly possible with next-generation sequencing. Our Atypical Diabetes Program formed a partnership with the Division of Genetic Medicine, creating a specialized Atypical Diabetes Genetics Clinic to provide genetic counseling and clinical diagnostic testing to patients with rare forms of diabetes and other metabolic diseases. Between 10/2019 and 07/2022, 82 patients were seen (42±12 years old; 76.3% female). Indications for referral varied: 32 (39.0%) were referred for suspected monogenic obesity, 31 (37.8%) for familial partial lipodystrophy (FPLD), 10 (12.2%) for MODY, 7 (8.5%) for familial dyslipidemia (FD), 4 (4.9%) for acquired partial lipodystrophy (APL), and 14 (17.1%) for other indications including concern for acquired generalized or partial lipodystrophy, adrenomyeloneuropathy, Alport syndrome, GIST, hemochromatosis, hypothyroidism and hypogonadism, immune dysregulation, laminopathy, multisystem health problems/congenital anomalies, Prader-Willi syndrome, renal glycosuria, and TAR syndrome. Fourteen (17.1%) patients were referred for multiple indications. Results from 64 patients who underwent genetic testing revealed 4 positive molecular findings (all in patients with lipodystrophy), confirming a pathogenic LMNA variant detected on research testing in one and revealing previously unknown molecular etiologies in three (a previously described likely pathogenic LMNA variant, a novel likely pathogenic PPARG variant, and a previously described homozygous pathogenic MFN2 variant). Clinical management was altered, aiming for a more personalized approach in patients with these new findings, and two are participating in clinical trials for their condition. Cascade testing for family members is now being pursued. Sixteen patients had variants of uncertain significance (VUS); in one of these cases, in silico prediction suggesting that the detected SH2B variant could be pathogenic has enabled enrollment in a Phase 2 study with setmelanotide. For other identified VUS, we are undertaking functional and biological studies using our novel translational platform, which was established to contribute evidence for possible variant reclassification. Deeper sequencing strategies are being considered for patients with negative results, with most of our patients participating in an NIH funded network study for Rare and Atypical Diabetes (RADIANT). In our early experience, partnering with a medical genetics team to provide molecular testing for rare forms of diabetes and other metabolic conditions can lead to precise molecular diagnosis and set the stage for deeper testing and improved clinical care while driving novel discovery work. Presentation: Saturday, June 17, 2023

Global health partnerships in the time of COVID-19: redefining the way we work

Background The emergence of COVID-19 disrupted several global health partnerships, with people unable to travel, meetings and conferences cancelled, and many forced to work remotely. The aim of this study was to explore the impact of COVID-19 on global health partnerships learning from the activities of the Division of Tropical and Humanitarian Medicine (DTHM) at the Geneva University Hospitals (HUG). Methods Five members of the DTHM team as well as five local partners from ongoing projects within the DTHM in Bosnia-Herzegovina, Kyrgyzstan, Nepal, Peru and Ukraine were interviewed. A qualitative approach was chosen employing an interpretive approach using Grounded Theory involving the application of inductive reasoning for the analysis. Results Interviewees describe both positive and negative impacts of COVID-19 for the existing partnerships. The use of on-site visits was disrupted and replaced by extra remote monitoring. Digital tools enabled the continuity of interactions ensuring that the partnership could continue to operate. Online tools allowed access to a wider audience and advantages with regards to time, cost and the environment. However, going online was unable to fully replace human interactions and exchanges which are core components of any partnership. Conclusions COVID-19 resulted in the DTHM and its partners needing to redefine and improve how partnerships were established and maintained. This change in how partnerships operated and adapted during the pandemic will require ongoing assessment to see the long-term impact of these changes in the ways partnerships function in a post-COVID-19 environment.

Characteristics, course and condition of patients presenting to an adolescent medicine eating disorder program: A three-year study

PurposeEvaluate clinical characteristics at initiation, during, and at discontinuation of care for patients with eating disorders regardless of reason for discontinuation of care. MethodsA chart review of 279 patients who presented to the Division of Adolescent Medicine of Cohen Children's Medical Center (Northwell Health, New York) between May 1, 2014 and April 30, 2015. Demographics and clinical information including anthropometry, last menstrual period (LMP), caloric intake, eating disorder behaviors, length of illness, DSM-5 eating disorder diagnosis was collected from 2734 visits. Results45% of patients had Anorexia Nervosa (AN), 24% had Atypical Anorexia Nervosa (AAN), 15% had Bulimia Nervosa/Purging Disorder (BN/PD), and 17% had Avoidant Restrictive Food Intake Disorder (ARFID). Patients on average were sick for 18 months and lost 20 pounds prior to presentation. Physicians indicated they wanted patients to remain in active treatment in approximately 40% of cases where care was discontinued. The factors, used to predict which patients would have an unsuccessful vs successful outcome (defined as needing vs not requiring frequent care), were analyzed. A history of diet-pill use, purging, and exercise predicted an “unsuccessful outcome” (p = 0.02, p = 0.005, p=0.03, respectively). 32% of the 202 menarchal females lost their menses prior to treatment, and 54% had resumption of menses during treatment. ConclusionsPrevious studies report high dropout rates in treatment of eating disorders across various treatment modalities and focus on those who remain in care. Here outcomes for all patients evaluated and treatment in an adolescent medicine care model are presented and show that a sizable portion, 37%, of those who drop out are recommended to stay in active treatment and only approximately 30% complete treatment. This finding supports an adolescent care model for eating disorder treatment and highlights that most adolescent patients go on to do well after leaving treatment, even if they left care earlier than recommended.

Defining Usual Oral Temperature Ranges in Outpatients Using an Unsupervised Learning Algorithm

Although oral temperature is commonly assessed in medical examinations, the range of usual or "normal" temperature is poorly defined. To determine normal oral temperature ranges by age, sex, height, weight, and time of day. This cross-sectional study used clinical visit information from the divisions of Internal Medicine and Family Medicine in a single large medical care system. All adult outpatient encounters that included temperature measurements from April 28, 2008, through June 4, 2017, were eligible for inclusion. The LIMIT (Laboratory Information Mining for Individualized Thresholds) filtering algorithm was applied to iteratively remove encounters with primary diagnoses overrepresented in the tails of the temperature distribution, leaving only those diagnoses unrelated to temperature. Mixed-effects modeling was applied to the remaining temperature measurements to identify independent factors associated with normal oral temperature and to generate individualized normal temperature ranges. Data were analyzed from July 5, 2017, to June 23, 2023. Primary diagnoses and medications, age, sex, height, weight, time of day, and month, abstracted from each outpatient encounter. Normal temperature ranges by age, sex, height, weight, and time of day. Of 618 306 patient encounters, 35.92% were removed by LIMIT because they included diagnoses or medications that fell disproportionately in the tails of the temperature distribution. The encounters removed due to overrepresentation in the upper tail were primarily linked to infectious diseases (76.81% of all removed encounters); type 2 diabetes was the only diagnosis removed for overrepresentation in the lower tail (15.71% of all removed encounters). The 396 195 encounters included in the analysis set consisted of 126 705 patients (57.35% women; mean [SD] age, 52.7 [15.9] years). Prior to running LIMIT, the mean (SD) overall oral temperature was 36.71 °C (0.43 °C); following LIMIT, the mean (SD) temperature was 36.64 °C (0.35 °C). Using mixed-effects modeling, age, sex, height, weight, and time of day accounted for 6.86% (overall) and up to 25.52% (per patient) of the observed variability in temperature. Mean normal oral temperature did not reach 37 °C for any subgroup; the upper 99th percentile ranged from 36.81 °C (a tall man with underweight aged 80 years at 8:00 am) to 37.88 °C (a short woman with obesity aged 20 years at 2:00 pm). The findings of this cross-sectional study suggest that normal oral temperature varies in an expected manner based on sex, age, height, weight, and time of day, allowing individualized normal temperature ranges to be established. The clinical significance of a value outside of the usual range is an area for future study.

Therapy With Inhaled Treprostinil, Macitentan, and Tadalafil/Riociguat in High-Risk Pulmonary Arterial Hypertension.

Department of Medicine, Division of Pulmonary, Critical Care and Sleep Medicine, University of Nebraska Medical Center, Omaha, NE K. El-Kersh provided consultative services to Acceleron, served on advisory boards for J&J Actelion, and United Therapeutics, received institutional research funding from J&J Actelion and United Therapeutics and participated in United Therapeutics speaker bureau (2018–2021).

Evaluating the Science to Inform the Physical Activity Guidelines for Americans Midcourse Report

Evaluating the Science to Inform the Physical Activity Guidelines for Americans Midcourse Report