Complete Diagnostic Evaluation Research Articles

Screening for cardiac amyloidosis in patients with tenosynovial red flags: A collaboration between family medicine and cardiology

BackgroundAmyloid deposition in tenosynovial structures precedes cardiac involvement up to 20 years. Therefore, a cardiological screening in patients with a history of tenosynovial manifestations of cardiac amyloidosis (CA) could lead to an increased number of early diagnoses. MethodsPatients with tenosynovial manifestations of CA (carpal tunnel syndrome, atraumatic biceps tendon rupture, lumbar spinal stenosis) have been identified by general practitioners and evaluated in a Referral Center for CA. Patients with a high suspicion of CA underwent the CA diagnostic pathway. ResultsAmong 50 General Practitioners (GP) contacted, 10 (20%) agreed to participate in the study for a total of 5615 patients ≥60 years. One hundred forty-five patients met the inclusion criteria, 2 of them already had a diagnosis of CA, and 57 agreed to undergo a cardiological evaluation (electrocardiography, echocardiography, NTproBNP assay). The median age was 73 [67–80] years and 31 (54%) were women. Eight patients were suggested to start the CA diagnostic pathway, five of them underwent a complete diagnostic evaluation for CA, three refused to complete the diagnostic exams and no new diagnoses were made. ConclusionA screening program for CA in patients with tenosynovial manifestations identified by general practitioners is feasible, but may not yield a high rate of new diagnosis. In this study, we identified two patients who already had a diagnosis of CA, and among patients at high risk for CA, 37% refused to complete the diagnostic pathway. Increased awareness of CA among patients might increase participation and diagnostic yield in screening studies. Further validation of this protocol is needed to evaluate its diagnostic performance.

Preterm infant with necrotizing enterocolitis and arteritis secondary to streptococcus gallolyticus subspecies pasteurianus.

Streptococcus gallolyticus subspecies pasteurianus is a subtype of Streptococcus bovis (S. bovis) that has become increasingly recognized as a sepsis-causing pathogen in neonates. It is well documented that S. bovis species have a predilection to both cardiac and gastrointestinal tissue, and in adult populations, isolating these organisms in the bloodstream often triggers further evaluation for co-morbid complications such as colon cancer or endocarditis. However, no such guidance currently exists in neonatal literature. We present a case of a preterm infant with S. gallolyticus subsp. pasteurianus bacteremia presenting as necrotizing enterocolitis (NEC) not previously described in the literature. Furthermore, through a complete diagnostic evaluation, including an echocardiogram, our patient was found to have the rare complication of endocarditis.

Esophageal food bolus impaction in pediatric age.

Esophageal food impaction (EFI) is the sudden onset of dysphagia that occurs when a food bolus becomes lodged in the esophagus, requiring endoscopic removal. Scientific data on the prevalence and causes of EFI in children is lacking. The aim of this study was to provide further insights into EFI episodes in children. We have prospectively enrolled all children admitted for a first episode of EFI between March 2018 and March 2023. A fluoroscopic contrast study was performed in all patients to confirm the boluses and assess their position. Boluses were extracted by esophagogastroduodenoscopies, and esophageal biopsies were routinely obtained for histologic evaluation. Over the study period, 41 children were admitted for a first episode of food impaction. Drooling was the most commonly reported symptom. Half children experiencing a first episode of food bolus were diagnosed with EoE (20/41, 48.8%). Almost a fourth of the episodes subtended a different condition, such as esophageal anastomotic, peptic or congenital strictures, stricturing caustic esophagitis, esophageal duplication,and achalasia. In the last fourth of patients the cause of EFI was not identified and thus probably related to quick eating and inadequate chewing of food. Our study represents the largest known series of pediatric patients evaluated for food bolus impaction. Our main finding is the high frequency of EoE, which accounts for a half of EFI episodes in pediatric age, especially in older children. This finding highlights the importance of obtaining esophageal biopsies after the endoscopic bolus removal in children with EFI to provide a complete diagnostic evaluation.

Postpartum Psychosis: A Preventable Psychiatric Emergency.

Postpartum psychosis is the most severe psychiatric disorder associated with childbirth. Although rare, it is considered a psychiatric emergency that warrants immediate medical attention and inpatient care to ensure safety, complete diagnostic evaluation, and treatment initiation. This article describes the phenomenology of postpartum psychosis, clinical evaluation, treatment guidelines, and prevention strategies.

Cerebral Proliferative Angiopathy as the Cause of Symptomatic Epilepsy in a Young Adult Male: A First Case Report from Indonesia

Background: Cerebral proliferative angiopathy (CPA) is a rare and distinct vascular malformation that was once considered a subset of cerebral arteriovenous malformation (AVM). Due to its relatively benign course with no distinctive clinical feature, CPA may often be overlooked and misdiagnosed with other diseases. We report a case of CPA as the underlying cause of symptomatic epilepsy. Case: A 31-year-old male presented to the outpatient clinic with a history of focal to bilateral tonic-clonic seizure for 2 years. Following conservative management with an oral antiepileptic agent, the seizure frequency significantly decreased from once daily to once or twice monthly. The patient was lost to follow-up; however, he was incidentally referred back to our clinic two years later for further evaluation. A head Magnetic Resonance Imaging and Magnetic Resonance Angiography revealed a suspicion of giant AVM in the left hemisphere. Cerebral digital subtraction angiography (DSA) was performed and revealed a CPA in the left frontal area. The patient was managed conservatively and during the 6-month follow-up period, the patient did not have any seizures. Discussion: In young adults, seizures may be caused by an underlying vascular abnormality. Cerebral DSA remained the gold standard for distinguishing various etiologies of vascular malformation, including CPA. Conservative treatment using oral antiepileptic agents was effective in controlling the seizure frequency in CPA. However, a complete diagnostic evaluation is still warranted to determine the most appropriate treatment, revealing some peculiar and unexpected etiologies in the process.

Experience of "One Stop TB Diagnostic Solution" Model in Engaging a Private Laboratory for End-to-End Diagnostic Services in the National TB Elimination Program in Hisar, India.

The complete diagnostic evaluation of tuberculosis based on its drug-resistance profile is critical for appropriate treatment decisions. The TB diagnostic landscape in India has been transformed with the scaling-up of WHO-recommended diagnostics, but challenges remain with specimen transportation, completing diagnostic assessment, turnaround time (TAT), and maintaining laboratories. Private laboratories have demonstrated efficiencies for specimen collection, transportation, and the timely testing and issue of results. A one-stop TB diagnostic model was designed to assess the feasibility of providing end-to-end diagnostic services in the Hisar district of Haryana state, India. A NTEP-certified private laboratory was engaged to provide the services, complementing the existing public sector diagnostic services. A total of 10,164 specimens were collected between May 2022 and January 2023 and these were followed for the complete diagnostic assessment of Drug-Susceptible TB (DS-TB) and Drug-Resistant TB (DR-TB) and the time taken for issuing results. A total of 2152 (21%) patients were detected with TB, 1996 (93%) Rifampicin-Sensitive and 134 (6%) with Rifampicin-Resistant TB. Nearly 99% of the patients completed the evaluation of DS-TB and DR-TB within the recommended TAT. The One-Stop TB/DR-TB Diagnostic Solution model has demonstrated that diagnostic efficiencies could be enhanced through the strategic purchase of private laboratory services.

Neonatal Hearing Screening Programme And Challenges Faced By The Developing Country: A Tertiary Care Hospital Experience.

To screen new-borns to diagnose any hearing impairment early. The prospective, cross-sectionalstudy was conducted at the Department of Otorhinolaryngology, Head and Neck Surgery Liaquat National Hospital, Karachi, from November 1, 2020, to April 30, 2021, and new- borns of either gender aged >12h born via spontaneous vaginal delivery, induced labour, and Caesarean section. A predesigned questionnaire was used to collect detailed case history, including gestational age, duration of labour, and other prenatal, natal, and postnatal risk factors. Otoacoustic emission test was performed, and infants referred twice were scheduled for complete diagnostic evaluation and brainstem evoked response audiometry. Data was analysed using SPSS 23. Of the 267 neonates, 249(93.3%) passed the first screening. Of the remaining 18(6.7%) neonates, 8(44.4%) passed the second screening, while 10(55.5%) were asked to come for a follow-up after three weeks. Of them, 3(30%) returned for check-up, while 7(70%) did not show up. Neonatal risk factors associated with hearing loss need to be identified, and a comprehensive hearing screening programme is required for neonates.

Esophageal diverticula: from diagnosis to therapeutic management-narrative review.

Esophageal diverticulum (ED) is a relatively rare condition, characterized by high etio- and pathophysiological versatility, with an uncommon clinical impact, consequently requiring a complete and complex diagnostic evaluation, so that the therapeutic decision is "appropriate" to a specific case. The aim of the paper is, therefore, a reassessment of the diagnostic possibilities underlying the establishment of the therapeutic protocol and the available therapeutic resources, making a review of the literature, and a non-statistical retrospective analysis of cases hospitalized and operated in a tertiary center. Thus, classical investigations (upper digestive endoscopy, barium swallow) need to be correlated with complex, manometric, and imaging evaluations with direct implications in therapeutic management. Moreover, in the absence of a precise etiology, the operative indication needs to be established sparingly, with the imposition of the identification and interception of the pathophysiological mechanisms through the therapeutic gesture. The identification of the pathophysiological mechanisms is mandatory for the management of diverticular disease, the result obtained-restoring swallowing and comfort/good quality of life in the postoperative period-is directly related to the chosen therapeutic procedure. In addition, management appears to be a difficult goal in the context of the low incidence of ED but also of the results that emphasize important differences in the reports in the medical literature. Although ED is a benign condition, surgical techniques are demanding, impacted by significant morbidity and mortality. The causes of these results are multiple: possible localizations anywhere in the esophagus, diverticulum size/volume from a few millimeters to an impressive one, over 10-12 cm, metabolic impact in direct relation to the alteration swallowing, numerous diverticular complications but, perhaps most importantly, alteration of the quality of the diverticular wall by inflammatory phenomena, with an impact on the quality of the suture. The accumulation of cases in a tertiary profile center, with volume/hospital, respectively volume/surgeon + gastroenterologist could be a solution in improving the results. One consequence would be the identification of alternative solutions to open surgical techniques, a series of minimally invasive or endoscopic variants can refine these results.

Case report: multiple lesions during navigation bronchoscopy; seen one, seen them all?

Peripheral pulmonary nodules are often detected as multiple nodules in one patient. Computed tomography (CT) guided transthoracic biopsy (TTNB) is the most widely implemented method for minimal invasive biopsy of pulmonary nodules, but generally only one nodule is sampled per procedure. Navigation bronchoscopy is an endobronchial procedure with very low complication rates, and uses high-end image guidance which allows for the sampling of multiple nodules in one session, while also allowing inspection of the central airways and endobronchial ultrasound (EBUS) guided staging in one session. This report presents a unique case with three different synchronous primary tumors treated with three different treatment modalities that highlights the added value of cone-beam CT guided navigation bronchoscopy (CBCT-NB) in the diagnostic work-up of suspected early-stage lung cancer. This case describes an asymptomatic patient with no history of prior lung cancer referred because of a shadow seen on a screening X-ray. CT and positron emission tomography (PET) showed two nodules for which a navigation procedure was performed. Both nodules were sampled, and on inspection, a third occult endobronchial lesion was also found. Pathology revealed three separate primary tumors, which were treated with three different treatment modalities: surgery, radiotherapy and endobronchial cryoablation. Current follow-up at 12 months shows no signs of recurrence. This case highlights that synchronous primary malignancies do occur and require a patient tailored approach to minimize treatment related morbidity and optimize survival. To this goal, image guided navigation bronchoscopy allows for a full and complete diagnostic evaluation and can be combined with a staging EBUS in one single session.

Equine Gastric Ulcer Syndrome affects fitness parameters in poorly performing Standardbred racehorses.

Equine Gastric Ulcer Syndrome (EGUS) is a highly prevalent disorder in horses, which can be classified, based on the localization of the lesions, as Equine Squamous Gastric Disease (ESGD) or Equine Glandular Gastric Disease (EGGD). Although EGUS is recognized as a common cause of poor performance in racehorses, objective investigations about its relation with athletic capacity are lacking. Therefore, the present retrospective study aims to evaluate the associations between EGUS severity and some fitness parameters measured during an incremental treadmill test in Standardbred racehorses in training. With this aim, data from 87 Standard bred racehorses which underwent a complete diagnostic evaluation for poor performance was reviewed. During gastroscopic examination, a 0-4 score was assigned to ESGD, while EGGD was evaluated for absence/presence; a total EGUS score was obtained by adding 1 point to ESGD score in horses showing concomitant EGGD. Fitness parameters obtained during incremental treadmill test included speed at a heart rate of 200 bpm (V200), speed and heart rate at a blood lactate of 4 mmol/L (VLa4, HRLa4), peak lactate, lactate and heart rate at 30 minutes post-exercise, maximum speed, minimum pH and maximum hematocrit. The associations between fitness parameters and EGUS and ESGD scores were evaluated by Spearman correlation, while Mann-Whitney test was used to compare them between horses with or without EGGD. Statistical significance was set at p<0.05. EGUS grade was inversely correlated with V200 (p = 0.0025) and minimum pH (p = 0.0469); ESGD grade was inversely correlated with V200 (p = 0.0025) and VLa4 (p = 0.0363). Although a trend was observed, no significant differences in V200 were observed between horses with or without EGGD (p = 0.073); horses with EGGD reached a lower minimum pH (p = 0.0087). These results show a negative association between aerobic capacity and EGUS, in particular ESGD. Although different hypotheses have been proposed, including abdominal pain and decreased appetite due to lactate accumulation, the underlying mechanisms are still unknown, and it is not clear whether EGUS represents a cause or a consequence of an early lactate accumulation and post-exercise acidosis.

S261 Effect of a Patient Navigator on Colonoscopy Completion in FIT Positive Patients Refractory to Initial Scheduling Attempts

Introduction: Decreased time from positive fecal immunochemical test (FIT) to colonoscopy is associated with decreased morbidity and mortality from colorectal cancer. However, colonoscopy is often delayed or forgone for a variety of reasons. Prior studies have shown that patient navigation for FIT+ patients increases the likelihood of colonoscopy completion. The purpose of this study was to evaluate the impact of a patient navigator on improvement in colonoscopy completion in Veterans who had not completed timely colonoscopy after FIT+. Methods: Patients in the Veterans Affairs Puget Sound Health Care System with FIT+ between 1/1/2020 and 6/30/2021 who had not yet completed colonoscopy were randomized in 11/2021 to: 1) navigation with a mailed letter and phone call from a trained, non-clinical staff member, 2) mailed letter only, or 3) control. The patient navigator provided basic education to the patient, elicited barriers to care, and facilitated seamless interaction with the primary care team. Demographic variables were recorded from the medical record. The Care Assessment Need (CAN) score was used to assess comorbid status. Outcomes were assessed as of 6/1/2022. Binary logistic regression and Kaplan Meier analyses were performed using SPSS. Results: 170 FIT+ patients were identified and 56, 56, and 58 patients were assigned to the Navigator, Mailed Letter, and Control groups, respectively. Patient demographics were similar between cohorts (Table). Colonoscopy completion was significantly increased in the Navigator group (p < 0.05), while the letter alone had no significant impact (Table). Navigation was also associated with improved documentation of reasons for no colonoscopy (p < 0.05). Adjusting for measured covariates, compared to the Navigator group, the odds of colonoscopy completion was significantly lower for the Mailed Letter group (OR 0.31 (CI 0.14-0.67)) and the Control group (OR 0.37 (CI 0.17-0.78)). Kaplan Meier analysis (Figure) revealed statistically significant differences in time to colonoscopy between the three groups. Conclusion: Patient navigation with a trained non-clinical staff member significantly improves colonoscopy completion following FIT+ in patients who are refractory to initial attempts at timely colonoscopy. Mailing a letter alone had no significant benefit. Further efforts are needed to ensure timely and complete diagnostic evaluation of patients with FIT+ screening. This study was sponsored by a grant from the American Cancer Society.Figure 1.: Kaplan Meier for Colonoscopy Completion Following FIT+ (p = 0.05) Table 1. - Demographic Information and Descriptive Results Overall (n = 170) Navigator (n = 56) Mailed Letter Only (n = 56) Control (n = 58) Mean Age (years) 67.3 65.8 68.6 67.5 Sex (% men) 90.1 89.3 91.1 91.4 Race (% white) 80.1 76.8 85.7 79.3 Hispanic Status (% Hispanic) 0.01 0.0 0.02 0.0 Mean CAN Score 60.0 62.2 57.7 60.0 Referral to GI Placed (%) 82.9 87.5 85.7 75.9 Colonoscopy Completed (%) 28.8 41.1 23.2 22.4 Colonoscopy Completed or Appropriate Reason for no Colonoscopy (%) 47.1 66.1 33.9 39.7 Median Days from FIT+ to Colonoscopy 211 230 235 196

Implementation of a large-scale breast cancer early detection program in a resource-constrained setting: real-world experiences from 2 large states in India.

BackgroundThe Breast Health Initiative (BHI) was launched to demonstrate a scalable model to improve access to early diagnosis and treatment of breast cancer.MethodsA package of evidence‐based interventions was codesigned and implemented with the stakeholders, as part of the national noncommunicable disease program, through the existing primary health care system. Data from the first 18 months of the BHI are presented.ResultsA total of 108,112 women received breast health education; 48% visited the health facilities for clinical breast examination (CBE), 3% had a positive CBE result, and 41% were referred to a diagnostic facility. The concordance of CBE findings between health care providers and adherence to follow‐up care improved considerably, with more women visiting the diagnostic facilities and completing diagnostic evaluation within 1 month from initial screening, and with only 9% lost to follow‐up. The authors observed a clinically meaningful decrease in time to complete diagnostic evaluation with biopsy, from 37 to 9 days.ConclusionsThe results demonstrate the feasibility and effectiveness of implementing a large‐scale, decentralized breast cancer early detection program delivered through the existing primary health care system in India.

Racial Disparities in the Diagnostic Evaluation of Multiple Myeloma

Introduction: Multiple myeloma (MM) is the most common hematologic malignancy in Black individuals with a 2-to-3-fold higher incidence rate among Black compared to White individuals. While therapeutic advances have led to significant increases in survival rates in MM across races, there still exist racial disparities in outcomes that have been attributed to inferior access to novel therapies and autologous stem cell transplant among Black patients. Risk stratification is an important strategy that allows clinicians to identify high-risk disease and potentially tailor therapy based on staging to try to abrogate its poor prognosis. Current risk stratification schemata in MM, such as the International Staging System (ISS) and Revised ISS (R-ISS), necessitate serum laboratory data and fluorescence in-situ hybridization (FISH) cytogenetic analysis of bone marrow specimens. To the best of our knowledge, it is unknown if discrepancies exist in the initial diagnostic workup of MM between Blacks and Whites, which ultimately may have treatment and outcome implications. We sought to assess the presence of racial disparities in the diagnostic workup of newly diagnosed MM among Black and White patients.Methods: We performed a retrospective cohort study using the Surveillance, Epidemiology and End Results (SEER)-Medicare linked database, which includes 16,174 MM patients with patient-level demographics, survival data, and health care claims information. The data included patients ≥ 65 years-old with the diagnosis of MM between 2001-2015. Race was documented by SEER registries. Lab and imaging data were collected from 180 days before and after diagnosis to capture an ample and appropriate allotted time for diagnostic workup. CPT codes were queried to determine the frequency of the diagnostic tests of interest. Data were analyzed through R version 4.0.2. Pearson chi-squared tests were used to compare frequency of diagnostic testing between racial groups.Results: A total of 18,267 MM patients were identified in the SEER-Medicare linked database. Of that, 15,360 MM patients (12,645 White and 2,715 Black) were identified with peripheral blood laboratory, bone marrow, and imaging health care claims data available . The remaining 2,907 patients with a documented race other than White or Black were excluded. Complete blood count and comprehensive metabolic panel serum tests were used to evaluate completeness of CPT codes use, which demonstrated that >89% (13,723/15,360) of individuals had both tests performed. Overall, Black patients had lower frequency of nearly all serum and imaging tests completed relative to White patients (Table 1). Only 61% of White patients underwent the testing components necessary to adequately risk-stratify disease by ISS (e.g., beta-2 microglobulin) compared to 50% of Black patients (relative difference 21%). 30% of White individuals underwent the components to determine R-ISS (e.g., FISH cytogenetics). There were low overall rates of FISH cytogenetics obtained in the study population, with White individuals undergoing FISH cytogenetics at a rate of 30% compared to 25% among Black individuals (relative difference 18%). Magnetic resonance imaging (MRI) of the lumbar spine, the most commonly imaged portion of the spine by MRI, was performed more commonly in White vs Black individuals (33% vs 24%, relative difference 35%). PET/CT was performed in only a small percentage of patients (Whites 9% vs Blacks 5%, relative difference 94%).Conclusions: In a real-world analysis of patients with newly diagnosed MM, we found that Black patients were less likely than White patients to undergo a complete initial diagnostic evaluation. While rates of beta-2 microglobulin and FISH cytogenetics testing were low among all patients, Black patients were less likely to undergo testing needed to complete staging for ISS/R-ISS or proper imaging to assess for extramedullary disease (i.e., PET/CT). Whether these differences between the races in the initial diagnostic workup lead to differences in treatment strategies and survival outcomes deserves additional investigation. Further work is needed to improve access to complete diagnostic evaluation among Black patients with newly diagnosed MM. [Display omitted] DisclosuresCalip: Pfizer: Research Funding; Roche: Current equity holder in publicly-traded company; Flatiron Health: Current Employment. Derman: Sanofi: Membership on an entity's Board of Directors or advisory committees.

EVALUATION OF THE ROLE OF DIAGNOSTIC LAPAROSCOPY IN PATIENTS PRESENTING WITH NON SPECIFIC ABDOMINAL PAIN AND ITS CORRELATION WITH CLINICAL AND RADIOGRAPHIC FINDINGS

Background: The present study was planned to evaluate the role of diagnostic laparoscopy in patients presenting with non-specific abdominal pain and its correlation with clinical and radiographic findings.&#x0D; Methods: Prospective descriptive study conducted on 50 patients, who fulfill the inclusion and exclusion criteria was included in the study.&#x0D; Results: 60% cases laparoscopy provide diagnostic &amp; therapeutic or both. After laparoscopy 92% cases pain were resolve.&#x0D; Conclusion: Diagnostic laparoscopy can identify abnormal findings and improve the outcome in patients with chronic abdominal pain. However, it should be considered only after a complete diagnostic evaluation has been carried out.&#x0D; Keywords: Laparoscopy, diagnostic, therapeutic

Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity.

Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity.

How specific molecular-targeted agents can make obsolete a 'one size fits all' approach in EGFR-mutated NSCLC treatment (Review).

Despite many advances in the latest period, lung cancer remains the cancer with the highest mortality. The latest developments concerning lung cancer treatment have changed the clinical practice by prolonging patient survival; however, unfortunately, there remains a high mortality rate firstly due to disease aggressivity and secondly through lack of early diagnosis and screening programs. Currently, researchers and clinicians are talking about personalized cancer treatment, and a complete diagnostic evaluation should consider, in addition to staging and histology, molecular aberrations, and genetics of the tumor tissue. The development of tyrosine kinase inhibitors (TKIs) has led to an improvement in survival for patients with EGFR mutations, this being the most studied driver mutation in adenocarcinoma; and at the same time an important predictive factor for patient outcome following the treatment with TKIs. Reseach must investigate the different TKI combination strategies in order to overcome resistance and to increase patient survival. Currently, there are ongoing clinical trials that will probably change the therapeutic approach for EGFR-mutated advanced or metastatic NSCLC patients.

Laparoscopic gonad-sparing procedure in Ovotesticular disorder of sex development – Case video technique

Ovotesticular disorder of sex development (OTD) is a rare condition. There's a lack of literature addressing gonad-sparing surgery for OTD. Report the laparoscopic partial gonadectomy technique - gonad-sparing surgery - in an 11-year-old child, 46, XX karyotype with OTD with atypical genitalia. After a complete diagnostic evaluation the patient underwent feminizing genitoplasty followed by laparoscopic partial gonadectomy (gonad-sparing surgery). The patient was positioned on supine position and Trendelenburg. One 5mm port was placed on the umbilicus and two 3mm ports in both flanks. A gonadal wedge biopsy was performed to achieve histopathological confirmation before resection. The testicular component of the ovotestis is clearly identified based on macroscopic aspects, and resected with laparoscopic scissors and limited use of electrocautery. This case was classified as bipolar or terminal ovotestis. At the 5-month follow-up, the patient attained menarche. No adverse outcomes have been recorded. Postoperative third year follow-up hormone evaluation revealed a= female pattern characteristic and ultrasound demonstraed uterine volume increase, as well as bilateral ovarian tissue development with follicles. Gonad-sparing procedure is feasible and desirable whenever possible, especially in 46, XX patients with female sex of rearing, since it preserves the fertility potential. The risk of malignancy must be monitored.

Diagnosis and Management of HIV-Associated Pulmonary Diseases in a Ryan White-Funded Primary Care Setting.

Despite widespread use of antiretroviral therapy (ART), people with HIV (PWH) continue to suffer substantial morbidity and mortality from pulmonary diseases. We sought to evaluate the prevalence of pulmonary symptoms, evaluations, and diagnoses (both infectious and noninfectious) among PWH receiving care at one of the largest HIV clinics in the United States. All PWH seen at the Infectious Disease Program in Atlanta, Georgia, from July 2013 to June 2018 were included. Multivariable logistic regression was used to assess the odds of all-cause mortality. Among 8387 patients, median age was 48 years, 35% had documented smoking, 74% were male, and the 47% with ≥1 pulmonary symptom or diagnosis were older and had higher rates of smoking compared to those without any symptoms or diagnoses (p-values <0.0001). Percent on ART was 97% and 81% for individuals with and without symptoms or diagnoses, respectively (p-value <0.0001). Patients with an infectious diagnosis were more likely to have a diagnostic test ordered than those with a noninfectious diagnosis (p-value <0.0001). After adjustment for demographic and clinical risk factors, odds of death were 2.1 times greater [95% confidence interval (CI) = 1.3-3.5] among those with a pulmonary symptom or diagnosis compared to those without. Despite a high prevalence of pulmonary symptoms and diagnoses in this large cohort of PWH, many did not have a complete diagnostic evaluation, particularly those with noninfectious diagnoses. Greater awareness of evaluation and treatment of noninfectious pulmonary diseases among HIV care providers will be critical to improving long-term outcomes for PWH.

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Choosing unwisely: Low-value care in older adults with a diagnosis of myelodysplastic syndrome.

1532 Background: In tandem with the Choosing Wisely initiative, ASCO’s Cost of Care Task Force has proposed a list of low-value (LV) procedures and therapies that may be of limited benefit to patients. Myelodysplastic syndrome (MDS) is the most common myeloid malignancy in the US. A complete diagnostic evaluation (CDE) of MDS requires a bone marrow biopsy, fluorescence in situ hybridization and chromosomal analysis. As a potential LV procedure, we evaluated receipt of CDE in MDS patients with isolated or no cytopenias and no transfusion dependence. Methods: Using national 2011-2014 Medicare data, we identified fee-for-service Medicare patients 66 years of age or older with an MDS diagnosis, one or no cytopenias, and no blood transfusions in the 16 weeks before or after an MDS diagnosis (n = 16,779). We examined the following variables that may have provided a clinical context to (or not to) pursue CDE – demographics (age, race, sex); number of Elixhauser comorbid conditions ( &lt; 5 vs &gt;5); nursing home status, prior history of lymphoma, myeloma, MGUS and other cancers; chronic kidney disease (CKD); colonoscopy; and therapies received including erythropoiesis stimulating agents (ESAs), hypomethylating agents (HMAs) or lenalidomide. We conducted Classification and Regression Tree (CART) analysis, a machine learning approach to identify combinations of factors in patients with little clinical justification for CDE, and Cox proportional hazards regression analysis to compare survival outcomes between those with or without CDE. Results: Over half of our study population (51%) received CDE. Of those, 46.6% were 80 years of age or older, 4.8% were nursing home residents; and 33.6% had 5 or more chronic conditions. Results from CART analysis showed that among patients with an isolated cytopenia (e.g., isolated anemia), 46.0% of patients &gt;80 years (n = 860), and 57.7% (n = 1,156) of those in the 66-79 age group underwent CDE in the absence of CKD, colonoscopy, HMA, or ESA. Among those with no cytopenia (n = 3890), 866 patients received CDE in the absence of HMA, ESA, or history of lymphoma or progression to leukemia. In adjusted analyses, no survival benefit was associated with receipt of CDE (p = 0.24). Conclusions: A substantial number of patients with an MDS diagnosis, isolated or no cytopenias, and no transfusion dependence received a CDE in the absence of other diagnoses, procedures, or therapies that may have explained the clinical decision to perform CDE. These procedures entail costs, pain and anxiety, but do not appear to yield useful information to guide clinical management, as evidenced by the comparable survival outcomes between patients who did and did not undergo CDE. To promote patient-centered care, careful patient selection that reduces unnecessary CDE in MDS patients should be a priority in clinical decision-making.