Definitive Diagnosis In Patients Research Articles

Surgical Treatment of Trigonocephaly, Simplified Technique for Moderate Cases.

The prevalence of trigonocephaly has increased worldwide over the past 2 decades. Early identification and appropriate treatment are critical. The aim of this study is to evaluate the outcomes and the effect of metopic suture excision, perisutural frontal bone shave, and bilateral pericranial flap method on the shape of the forehead after surgical correction in infants with moderate trigonocephaly. The present study was performed as a cross-sectional study on 40 infants of 3 to 12 months old with trigonocephalus who underwent metopic suture excision and pericardial flap surgery in Mofid Pediatric Hospital from 2016 to 2022. The definitive diagnosis of patients' trigonocephaly was made based on clinical signs and computed tomography scan findings by a plastic surgeon. Overall in 40 patients operated by this technique, 23 (57.5%) of cases were males, and 17 (42.5%) were females. The mean age of patients was 7.86 ± 2.22 months. Hospital stay was 2 to 4 days (mean: 3d), intensive care unit admission was in 33 cases for 24 hours, and no intensive care unit admission for 7 cases. Blood was transfused during surgery for 25 patients, and 15 patients did not require blood transfusion use. Results were evaluated in 6 to 12 months after surgery by 3 independent plastic surgeons, with pre and postoperative photos. Satisfaction with the results of forehead shape was excellent for 60% of patients, good for 37.5%, and moderate for 2.5%. Only one female patient had a recurrence after the surgery. This study showed that the pericranial flap method after full metopic suture excision and frontal shave was very effective in the treatment of infants with moderate trigonocephaly.

Percutaneous endovascular biopsy for the diagnosis of pulmonary artery masses: A preliminary study of single-center.

Percutaneous endovascular biopsy (PEB) including forceps biopsy and catheter aspiration has been used to make a pretreatment diagnosis for pulmonary artery (PA) masses. This retrospective study aims to describe the procedure of PEB and compare the diagnostic yield of forceps biopsy and catheter aspiration for a definite diagnosis in patients with PA masses. All consecutive 22 patients (53 ± 14 years), 11 males and 11 females, who underwent PEB for pathologic confirmation between November 2018 and November 2022 were enrolled. All 22 patients performed computedtomography pulmonary angiographyor positron emission tomography-computed tomographyto confirm the filling defects suspicious for PA malignancy before intervention. And then, all patients underwent PEB successfully without acute or fatal complications, including both forceps biopsy and catheter aspiration in 15 cases, only forceps biopsy in 5 cases, and only catheter aspiration in 2 cases. Histopathological analysis provided a definite diagnosis in all PEBs with a clinical success of 91.0% (20/22). Among them, in 15 patients who underwent both forceps biopsy and aspiration biopsy, the technical success using forceps biopsy was 93.3% (14/15), and aspiration biopsy was 6.7% (1/15), and there was a significant difference in diagnostic accuracy when comparing two techniques. Twenty-one out of 22 PA masses (95.5%) were malignant, of which, the most frequent malignant lesion observed was PA sarcoma (66.7%, 14/21). Benign lesion included one thrombus (4.5%, 1/22). In conclusion, PEB is an effective and safe diagnostic method for differentiating benign and malignant PA masses and could be peformed when PA masses appeared clinically malignant.

Initial single-center experience of a standardized protocol for invasive assessment of ischemia and non-obstructive coronary artery disease

IntroductionCoronary vasomotion disorders (CVDs), including microvascular angina (MVA) and vasospastic angina (VSA), account for significant morbidity among patients with non-obstructive coronary artery disease (NOCAD). However, protocols for CVD assessment in clinical practice are seldom standardized and may be difficult to implement. PurposeTo assess the safety and feasibility of a comprehensive coronary function test (CFT) protocol for assessment of CVD and the prevalence of different phenotypes of CVD in patients with angina and NOCAD (ANOCA). MethodsPatients with persistent angina referred for invasive coronary angiogram and found to have NOCAD were prospectively recruited and underwent a CFT. Functional parameters (fractional flow reserve, coronary flow reserve and index of myocardial resistance) and coronary vasoreactivity were assessed in all patients. ResultsOf the 20 patients included, the mean age was 63±13 years and 50% were females. Most patients had persistent typical angina and evidence of ischemia in noninvasive tests (75%). The CFT was successfully performed in all subjects without serious complications. Isolated MVA was found in 25%, isolated VSA in 40%, both MVA and VSA in 10% and noncardiac chest pain in 25% of patients. Antianginal therapy was modified after the results of CFT in 70% of patients. ConclusionA coronary function test was feasible and safe in a cohort of patients with ANOCA. CVD were prevalent in this selected group of patients, and some presented mixed CVD phenotypes. CFT may provide a definitive diagnosis in patients with persistent angina and prompt the stratification of pharmacological therapy.

Synovial biopsy for establishing a definite diagnosis in undifferentiated chronic knee monoarthritis

BackgroundUndifferentiated arthritis is a condition in which the problem cannot be classified into any definite diagnosis category. Various methods have been suggested to clarify the definite diagnosis in this class. The synovial biopsy is suggested as the last diagnostic approach to determine the precise histopathological diagnosis. In this study, we aimed to evaluate the efficacy of synovial biopsy for establishing a definite diagnosis in patients with undifferentiated chronic knee monoarthritis.MethodsThe present retrospective case series was conducted in 2005 in the rheumatology research center of Shariati hospital and the 501 hospital in Tehran, Iran. The study included the synovial biopsy of patients with chronic knee monoarthritis who did not have a definite diagnosis after all the diagnostic steps before the synovial biopsy. Pathology slides of the patients’ synovial biopsy were reevaluated with a senior expert pathologist.ResultsEighty patients with a mean age of 37.6 ± 17.32 years (range: 6–68) were included, of whom 50% were female. The gap time between the onset of knee monoarthritis and the decision-making for synovial biopsy was 14.34 ± 19.61 months. Histopathologic evaluations revealed non-specific synovitis in 65% of the patients and a definite diagnosis in 35%. The most common definite diagnosis was rheumatoid arthritis (9%), followed by septic arthritis (5%). The most common pathologic findings were endothelial proliferation (89%) and synovial proliferation (88%), and the most common infiltrating cell was lymphocyte (54%). Patients with non-specific synovitis were more likely to have neovascularization, cellular infiltration (p-value < 0.001), synovial proliferation, endothelial proliferation (p-value = 0.001), pannus formation (p-value = 0.009), and fibrosis (p-value = 0.022) compared to the patients with a definite pathologic diagnosis. However, age, gender, and the gap time between disease symptoms to synovial biopsy were not significantly different between the different groups of diagnosis (p-value > 0.05).ConclusionNon-specific synovitis remains the most common histopathologic finding, highlighting the importance of physician expert opinion for most of the patients with undifferentiated chronic knee monoarthritis. Studies with larger samples and immunohistochemistry analyses are needed to clarify this uncategorized entity further.

Feasibility and Safety of Transbronchial Lung Cryobiopsy for Diagnosis of Acute Respiratory Failure with Mechanical Ventilation in Intensive Care Unit.

Acute hypoxemic respiratory failure is common in intensive care units (ICUs). Lung biopsies may be required to make a definitive diagnosis in patients with unknown etiologies. The feasibility of transbronchial lung cryobiopsy is undetermined in patients with respiratory failure in the ICU. Patients who underwent bronchoscopy examinations with transbronchial lung cryobiopsy (TBLC) between July 2018 and December 2019 were retrospectively analyzed through medical chart review. The procedures were performed by well-experienced interventional pulmonologists. Ten patients underwent bronchoscopy examinations with TBLC in the ICU at Chang Gung Memorial Hospital during the study period. In all patients, the diagnosis was made via pathological analysis. One patient developed pneumothorax and required chest tube placement after the procedure. None of the patients had bleeding requiring blood transfusion, and no deaths were directly related to the procedure. TBLC is a feasible technique to obtain lung pathology in patients with acute respiratory diseases of unknown etiologies. While the complication rate may be acceptable, the procedure should be performed by experienced interventional pulmonologists. However, airway blockers and fluoroscopy are highly recommended when used according to the current guideline. We do not encourage TBLC to be performed without having airway blockers available at the bedside.

Diagnostic accuracy of ambulatory polysomnography with electroencephalogram for detection of sleep bruxism-related masticatory muscle activity.

This study investigated the diagnostic accuracy of Sleep Profiler, which relies on ambulatory polysomnography (PSG) with electroencephalogram for sleep bruxism (SB) and examined its episode-by-episode agreement in comparison to PSG equipped with audiovisual recordings (avPSG). This prospective 2-gate study recruited 10 individuals with probable SB and 10 healthy volunteers. Overnight experimental recordings were performed simultaneously using the ambulatory PSG with masseter electromyography and avPSG with masseter and temporalis electromyography. Sleep staging was performed manually for avPSG and automatically or manually for ambulatory PSG. SB episodes were manually scored based on electromyography signals with reference to sleep stages. The episode-by-episode agreement was analyzed by setting avPSG as the reference standard. The sensitivity, specificity, and accuracy for the diagnosis of SB were calculated after optimizing the cutoff values of the episode index and the burst index. Regarding the episode-by-episode agreement, median sensitivities were 0.825 and positive predictive values were approximately 0.6, regardless of the sleep staging procedure, indicating that approximately 40% of the overall total SB episodes scored by the ambulatory PSG were false positives. Because of overestimation of SB episodes, the optimal cutoff values for the episode index and the burst index were approximately 1.5 times higher than the avPSG-based cutoff values and dramatically improved the diagnostic precision metrics for the ambulatory PSG. Sleep Profiler can eliminate events during wakefulness by electroencephalogram and may provide a definitive diagnosis in patients with possible SB by applying optimized cutoff values. However, the risk of overestimation must be recognized. Registry: UMIN Clinical Trials Registry; Name: Accuracy of Portable PSG Device for Detection of Sleep Bruxism-Related Masseter EMG Muscle Activity; URL: https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000037380; Identifier: UMIN000032793. Abe Y, Nakazato Y, Takaba M, Kawana F, Baba K, Kato T. Diagnostic accuracy of ambulatory polysomnography with electroencephalogram for detection of sleep bruxism-related masticatory muscle activity. J Clin Sleep Med. 2023;19(2):379-392.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders. The objective of this study was to identify and characterize the underlying cause of disease in a family with two children with severe developmental delay associated with generalized dystonia and episodic status dystonicus, chorea, epilepsy, and cataracts. Candidate genes identified by autozygosity mapping and whole-exome sequencing were characterized using cellular and vertebrate model systems. Homozygous variants were found in three candidate genes: MED27, SLC6A7, and MPPE1. Although the patients had features of MED27-related disorder, the SLC6A7 and MPPE1 variants were functionally investigated. SLC6A7 variant in vitro overexpression caused decreased proline transport as a result of reduced cell-surface expression, and zebrafish knockdown of slc6a7 exhibited developmental delay and fragile motor neuron morphology that could not be rescued by L-proline transporter-G396S RNA. Lastly, patient fibroblasts displayed reduced cell-surface expression of glycophosphatidylinositol-anchored proteins linked to MPPE1 dysfunction. We report a family harboring a homozygous MED27 variant with additional loss-of-function SLC6A7 and MPPE1 gene variants, which potentially contribute to a blended phenotype caused by multilocus pathogenic variants. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Differential Diagnosis of Inflammatory Arthritis from Musculoskeletal Ultrasound View.

Diagnostic imaging in rheumatology has evolved over the centuries, and novel imaging modalities, including musculoskeletal ultrasonography (MSUS) and magnetic resonance imaging (MRI), are being widely used in the 21st century. With the increase in availability of molecular target-specific therapies, including biologic agents and Janus kinase (JAK) inhibitors, the therapeutic outcome of inflammatory arthritis has changed, and early and accurate diagnosis of inflammatory rheumatic diseases has become more important. Given this situation, MSUS, which is a portable, convenient, noninvasive, and cost-effective imaging technique, plays an important role in the diagnosis of rheumatic diseases. MSUS can be used to detect subclinical inflammation and to accurately determine the distribution of joint involvement and inflammation sites in each joint. Definitive diagnosis for patients with early arthritis should be made after noting their history and performing clinical examination, laboratory testing, and additional procedures. However, MSUS is an extension of physical examination and it can provide a further opportunity and motivation to consider differential diagnoses rather than a conclusive diagnosis. This review aims to describe the usefulness of MSUS in differential diagnoses of the phenotype of early inflammatory arthritis.

Efficacy of non-obstructive aortic angioscopy for detecting a thoracic aortic graft rupture: a case report

BackgroundNon-anastomotic thoracic aortic graft rupture is extremely rare and difficult to diagnose. Non-obstructive general angioscopy can help monitor the aortic intima and detect the locations of abnormal findings, while aortic angioscopy can detect vulnerable plaques in the aorta, which are difficult to visualize using conventional diagnostic methods. Herein, we report the case of a patient with non-anastomotic thoracic aortic graft rupture diagnosed using non-obstructive aortic angioscopy.Case presentationAn 85-year-old man who had undergone total arch replacement 5 years prior complained of chest pain. Emergent contrast-enhanced computed tomography (CT) revealed an intra-mediastinal hematoma around the vascular graft of the ascending aorta and angiography revealed pooling of contrast medium on the dorsal side of the vascular graft. We suspected extravasation of the thoracic vascular graft. Aortic angioscopic examination revealed a red vascular graft defect that matched extravasation at the contralateral level of the prosthetic left common carotid artery branch. Subsequently, non-anastomotic thoracic aortic graft rupture was diagnosed. The patient underwent a two-debranching thoracic endovascular aortic repair (Zone 0) with a right subclavian artery-left common carotid artery-left subclavian artery bypass. Postoperative angiography revealed disappearance of the extravasation from the graft rupture site, patent grafted vessels with flow, and no endoleak. Follow-up CT at 6 months postoperatively showed no extravasation.ConclusionsTo our knowledge, this is the first report of non-anastomotic thoracic aortic graft rupture detected using non-obstructive aortic angioscopy. Aortic angioscopy can help establish a definitive diagnosis in patients with aortic graft rupture.

Çocuklarda Kalıtsal Ataksili Hastalarda Tanısal Değerlendirme: Onüç Hasta ve Kapsamlı Yaklaşım

Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease.Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging of thirteen patients with ataxia in the last five years were reported in this study. Phenotypic expressions in patients with the genetically proved mutation were also reviewed.Results: We report four patients identified with Friedreich’s ataxia (FA) and four patients diagnosed with ataxia-telangiectasia (AT), one patient with spinocerebellar ataxia (SCA) type 42, one patient with Marinesco-Sjögren syndrome (MSS), two patients diagnosed with recently defined BRF 1 gene-related Cerebellofaciodental syndrome and one patient with ataxia-oculomotor apraxia (AOA) type 1. Clinical findings, neuroimaging, alpha-fetoprotein levels and electrophysiological findings were first-step tests in diagnostic evaluation. The diagnosis was defined in 85% of all patients with genetic studies.Conclusion: A systematic investigation is recommended for definitive diagnosis in patients with hereditary ataxia. Age at onset of symptoms, prognosis, hereditary pattern of ataxia and clinical findings leads to choosing the ancillary tests, imaging, and genetic studies. The exome sequencing is not an all-knowing test and may fail to find trinucleotide repeats, large deletion and duplications. Specific genetic studies, including single-gene sequencing, microarray methods, should be kept in mind.

Role of laparoscopy in diagnosis of acute nonspecific abdominal pain

Background Acute nonspecific abdominal pain (NSAP) is frequently encountered in the daily medical practice. This prospective study was performed to elucidate the role of early laparoscopy in the management of NSAP and to compare it with active clinical observation in such cases. Patients and methods A total of 100 cases with acute NSAP were randomly divided into two groups: early diagnostic laparoscopy (EDL) group included 50 cases who underwent EDL, and observational group included the remaining 50 cases who were closely observed. Outcome measures included the definitive diagnosis, operative time, duration of hospitalization, and postoperative morbidity. Results No statistically significant difference was noticed between the study groups regarding demographics. However, the duration of symptoms showed significant prolongation in the observation group. Regarding the final definitive diagnosis, no significant difference was noticed between the two groups (P Conclusion Diagnostic laparoscopy appears to be a reliable tool to reach a definite diagnosis in patients with NSAP because of its superior diagnostic ability, better visualization, low complications, and the ability to manage the pathology in the same setting.

Assessment, reliability, and validity of trichoscopy in the evaluation of alopecia in women.

BackgroundAlopecia in women is generally difficult to diagnose clinically. Trichoscopy may help make the correct diagnosis in doubtful cases.ObjectiveThe aims of the study were to assess the trichoscopic features of different types of alopecia in women, the reliability of trichoscopy vis-à-vis clinical findings, and the validity of trichoscopy in cases with a doubtful clinical diagnosis.MethodsA hospital-based observational, cross-sectional study was carried out on female patients with alopecia. A trichoscopic diagnosis was made and correlated with a clinical diagnosis. The validity of trichoscopy in doubtful cases was evaluated by reporting the sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic value.ResultsOn trichoscopy, increased hair diameter diversity > 20%, single-hair follicular unit, vellus hair, peripilar sign, and focal atrichia were commonly seen in female pattern hair loss. In telogen effluvium, there was a scarceness of specific findings. In cicatricial alopecias, loss of follicular ostia, erythema, white macules, blue-gray dots, white dots, tufted hair, and keratotic follicular plugging were observed. A good agreement between trichoscopy and clinical diagnosis was found (Cohen’s Kappa = 0.824; 95% confidence interval, 0.756–0.892). The validity of trichoscopy in doubtful cases was evaluated using the validity parameters, which were high in all alopecias.LimitationsHistopathology testing was not done in all patients.ConclusionTrichoscopy helped reach a definitive diagnosis in patients in whom the clinical diagnosis was doubtful. Thus, trichoscopy is a sensitive and specific investigation that can be valuable in women with alopecia.

A clinico-epidemiological study of hearing loss in adult patients presenting to a tertiary healthcare center in India

Background: The objectives of the study are: 1. To determine the profile of patients presenting with hearing loss. 2. To determine the causes of hearing loss in adult patients of various age groups. The cases for the study comprised of adult patients aged &gt;/=20years, presenting to the ENT Out-patient Department with complaint of hearing loss. Detailed history thorough ENT examination including Examination of the ear, nose and throat with Bull’s eye lamp, Otoscopic/Otomicroscopic/Otoendoscopic examination with photo-documentation of the ear status when required, tuning fork tests, and a battery of audiological tests including pure-tone audiometry, impedance audiometry and Brain-stem Evoked Response audiometry (when required) were conducted and the reports of the same were enclosed with the Pro forma of the patients. Results and Discussion: Hearing loss is more common in old age and more male patients presented with hearing loss. The most common symptom seen with hearing loss was tinnitus which was commonly ringing type and this was commonly seen in older patients associated with sensori-neural hearing loss. The most common type of hearing loss was sensori-neural hearing loss seen more commonly in older patients and associated with tinnitus. The definitive diagnosis for patients with sensori-neural hearing loss was difficult to specify with the most common diagnosis being presbyacusis, followed by noise induced hearing loss. The second common diagnosis was Chronic Otitis Media(COM).

Clinical Symptoms, Endoscopic and Stroboscopic Imaging in Patients with Laryngeal Fungal Infection in Relation to Fungal Identification Result

This paper aims to describe the similarities and differences in fungal laryngitis’ clinical characteristics, endoscopic, and stroboscopic imaging between patients with positive and non-positive fungal identification results. The study enrolled 48 patients diagnosed with fungal laryngitis by the Endoscopy Department in the National ENT Hospital of Vietnam from August 2019 to March 2020. The study results show that the patients in both groups had dysphonia (100%), with insignificant difference in the severity. However, the patients in the Positive group were more likely to go to hospital right in the first month of the symptom (55%), whereas the patients in the Non-positive group usually waited for more than 3 months (57.1%), (p&lt;0.05). In endoscopic imaging, fungal pseudomembrane could be found mainly on the vocal cords in both groups, with instances spreading to the subglottis (15%) and trachea (5%) in the Positive group (p&lt;0.05). The tissue layer of the patients in the Positive group was mostly inflamed, meanwhile the patients in the Non-positive group were more prone to swelling tissue (67.9%), (p&lt;0.05). In stroboscopic imaging, the difference was minimal. The patients in the Positive group were more likely to lose the mucosal wave formation (60%) than in the Non-positive group (46.4%). There were also insignificant differences in the mucosal wave’s characteristics: asymmetry (50% in the Positive group; 66.7% in Non-positive group), diverse periodicity (50% in the Positive group; 33.3% in the Non-positive group). The paper concludes that there were differences between the two groups of patients and the clinical, endoscopic and stroboscopic findings, fungal identification should be further implemented for definitive diagnosis in patients with fungal laryngitis. &#x0D; Keywords&#x0D; Fungal laryngitis, dysphonia, endoscopic imaging, stroboscopic imaging, fungal identification.&#x0D; References&#x0D; [1] G.D. Brown, D.W. Denning, N.A.R. Gow, and S.M. Levitz, Hidden killers: Human fungal infections. SciTransl Med (4) (2012) 1-6. https://doi.org/10.1126/scitranslmed.3004404 [2] M. Pal, Veterinary and medical mycology. 1st ed. New Delhi: Indian Council of Agricultural Research, 2007.[3] H. Luong, Diagnosis and treatment in patients with fungal laryngitis, Doctoral thesis, Hanoi Medical University, 2004.[4] D. Thai, D. Nguyen, Diagnosis and treatment in fungal laryngitis, Ho Chi Minh Med 15(1) (2011) 222-227.[5] J. Guinea, and M. Torres - Narbona, Pulmonary aspergillosis in patients with chronic obstructive pulmonary disease: incidence, risk factors, and outcome. Clin Microbiol Infect. 16 (7) (2010) 870-877. https://doi.org/10.1111/j.1469-0691.2009.03015.x[6] J.M. Wood, Theodore Anthanasiadis, and Jacqui Allen. 2009. Laryngitis. BMJ (349) (2009) 5827. https://doi.org/10.1136/bmj.g5827.[7] A. Chindamporn, A. Chakrabarti, and R. Li, Survey of laboratory practices for diagnosis of fungal infection in seven Asian countries: An Asia Fungal Working Group (AFWG) initiative, Med Mycol 56 (2018) 416 - 425. https://doi.org/ 10.1093/mmy/myx066 [8] R. Pribuisiene, V. Uloza, and P Kupcinskas, Perceptual and acoustic characteristics of voice changes in reflux laryngitis patients. J Voice 20 (1) (2006) 128 - 136. https://doi.org/10.1016/j.jvoice.2004.12.001.&#x0D; &#x0D; &#x0D;

DISSEMINATED PULMONARY HISTOPLASMOSIS IN AN IMMUNOCOMPETENT PREVIOUSLY HEALTHY INDIVIDUAL

SESSION TITLE: Medical Student/Resident Chest Infections Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Histoplasmosis infection is clinically silent in over 99% of immunocompetent individuals in endemic areas. If symptoms occur most are non-specific and self-limited. However, disseminated histoplasmosis can develop in immunocompetent patients with devastating consequences including significant mortality. CASE PRESENTATION: A previously healthy 45-year-old man presented after 2-3 weeks of worsening dyspnea, non-productive cough, and 20lb weight loss. Outpatient work up showed concern for atypical pneumonia, necessitating treatment with three escalating oral antibiotics showing no improvement prompting admission. He was transferred from an outside hospital intubated progressing toward ARDS requiring vasopressor support. On imaging there was diffuse bilateral peribronchovascular consolidation, groundglass opacities with septal thickening, hepatosplenomegaly, and retroperitoneal lymphadenopathy. Testing included respiratory viral panel positive for rhinovirus, fungitell, fungal blood cultures, urine antigens for histoplasmosis and blastomyces, and bronchoscopy. He was placed on broad spectrum antibiotics and itraconazole. The following day his fungal regimen was advanced to amphotericin B. Three days later his urine histoplasmosis antigen returned positive followed by a positive fungitell and lastly bronchoscopy cultures grew histoplasmosis. He required a month long hospital stay with aggressive ventilator support requiring tracheostomy, severe fevers requiring external cooling, and significant ATN that all slowly improved. Work up for an underlying etiology for possible immunosuppression was unrevealing. He was discharged to an extended care facility where he was liberated from the ventilator within a few days of hospital discharge with later tracheostomy decannulation. He remains on itraconazole 9 months later. He has returned to his regular activities. Most recent imaging shows mild scarring and residual consolidative and nodular opacities. DISCUSSION: Initial generalized symptoms and the rarity of disseminated histoplasmosis in immunocompetent patients can cause it to be overlooked on the differential, leading to significant delays in care. Further delays can occur as testing typically takes multiple days to result and may require bronchoscopy. In this case, a broad differential was considered with a decisive plan of starting the patient on amphotericin days prior to test results likely significantly improving overall prognosis. CONCLUSIONS: Timely diagnosis and treatment of disseminated histoplasmosis requires a broad differential diagnosis coupled with a high level of clinical suspicion. Aggressive treatment may need to begin prior to definitive diagnosis in patients with significant disease burden. Reference #1: Kauffman CA. Histoplasmosis: a clinical and laboratory update. Clin Microbiol Rev. 2007;20(1):115-132. doi:10.1128/CMR.00027-06 Reference #2: Ling Q, Zhu W, Lu Q, Jin T, Ding S. Disseminated histoplasmosis in an immunocompetent patient from an endemic area: A case report. Medicine (Baltimore). 2018;97(29):e11486. doi:10.1097/MD.0000000000011486 DISCLOSURES: No relevant relationships by Benjamin Ramser, source=Web Response No relevant relationships by Joy Wang, source=Web Response No relevant relationships by Steven Young, source=Web Response

COMPARISON OF PRE- VS POST-LUNG TRANSPLANT CAUSE OF INTERSTITIAL LUNG DISEASE

SESSION TITLE: Transplantation Posters SESSION TYPE: Original Investigation Posters PRESENTED ON: October 18-21, 2020 PURPOSE: The aim of this study is to compare the clinical diagnosis of interstitial lung disease to that determined on post-explant evaluation. METHODS: Retrospective study conducted through chart review of 50 consecutive lung transplants performed in patients with interstitial lung disease (ILD) at The University of Health Sciences Center at San Antonio. All charts of patients over 18 years of age who underwent lung transplantation with the diagnosis of ILD were carefully reviewed to determine the clinical pre-transplant diagnosis. Studies included high-resolution computed tomography (HRCT), serologic evaluation of connective tissue disease in all patients. Data from transbronchial biopsy or open lung biopsy were reviewed in determining the pre-transplant diagnosis. We compared the pre-lung transplant diagnosis to the post-transplant, pathologic diagnosis determined from the explanted lungs. RESULTS: A total of 50 patients with ILD who had either single or bilateral lung transplant were analyzed. Thirty-three patients (66%) had pre-transplant (pre-tx) diagnosis of usual interstitial pneumonia (UIP), eight patients (16%) had pre-tx diagnosis of nonspecific interstitial pneumonia (NSIP), six patients (12%) had a pre-tx diagnosis of connective tissue disease – ILD (CTD-ILD), one patient (2%) with pre-tx diagnosis of hypersensitivity pneumonitis (HSP) while four patients (8%) had other diagnoses, including indeterminate end stage lung disease (ESLD), type I congenital cystic adenomatoid malformation (CCAM) and constrictive bronchiolitis with fibrosis. After lung explant biopsies were reviewed, seventeen (34%) cases were reclassified compared to the pre-tx diagnoses. However, out of these seventeen cases, only six cases (12%) were clinically significant. Out of the six clinically significant misdiagnoses, three had a final diagnosis of HSP and three had a final diagnosis of NSIP. The remaining discrepancies in diagnosis were disorders t hat are known to progress to UIP. CONCLUSIONS: Almost two-thirds (66%) of all cases had consistent pre-transplant diagnoses when compared to post- transplant diagnoses. Most of the remaining cases (22%) had disorders known to progress to UIP. However, in 12% of cases, the diagnosis changed from a disorder with a progressive course to one that carries a different prognosis and might have responded to alternative therapies (NSIP and HSP). CLINICAL IMPLICATIONS: Definitive diagnosis in patients with ILD is both difficult and challenging. However, it is imperative to be cautious and observant when searching for disorders that are more responsive to environmental changes or responsive to immunotherapy. Early diagnosis of accurate ILD along with the use of multi-disciplinary discussion (MDD) can improve appropriate therapy in patients with ILD. DISCLOSURES: No relevant relationships by Sarah Hackman, source=Web Response No relevant relationships by Tasnim Islam, source=Web Response No relevant relationships by Jay Peters, source=Web Response

Headache, Outpatient management and referral to Specialty Clinics, clinical Audit

Background: Headache is one of the most common presenting symptom for patients attending the outpatient clinics. The key stone in primary management of cases presented with headache, and then subsequent proper referral to specialty clinics, depends on careful history taking and clinical examination. Objective: The aim of this audit is to get a comprehensive idea about patients presented with headache in the Outpatient Department (OPD) clinics including patients age, gender, primary management and subsequent referral to specialty clinics in Hatta hospital. So we can reevaluate and improve our clinical approach in dealing with patients having headache. Method: This study is a retrospective study based on hospital settings and was conducted in 2015 over one year in Hatta hospital, Dubai. We collected information about patients who attended the OPD with headache as the primary complaint. Results: One hundred eighty patients above the age of 4 years were selected. Females patients were 125(69.4%) while males were 55(30.6%).The age of most patients suffering from headache range from 15 – 40 years. Hypertension was found in 20 cases, while diabetes mellitus was diagnosed in 6 cases. Radiological studies (Plain X‐ray and/or Computerized Tomography) were done in 114 patients (63.3%). Most common causes of headache encountered in this study were tension headache, migraine and sinusitis. Conclusion: The history and clinical examinations usually permit a definitive diagnosis for patients with headache. Radiological and blood investigations were overused in assessment of patients. Change of life style is important as part of management plan.

EUS-FNB with or without on-site evaluation for the diagnosis of solid pancreatic lesions (FROSENOR): Protocol for a multicenter randomized non-inferiority trial

BackgroundRapid on-site evaluation (ROSE) of cytological specimensacquired with EUS-guided fine needle aspiration (EUS-FNA) represents the most accurate available technique to reach a definitive diagnosis in patients with pancreatic solid masses. Recently, needles with high histological yield have been developed for EUS-guided fine needle biopsy (EUS-FNB), with which the need for ROSE can be potentially overcome. AimsThe primary aim is to compare the diagnostic accuracy of EUS-FNB with or without ROSE. The main endpoint will be measured against the gold standard diagnosis (surgical pathology whenever available or diagnostic work-up in agreement with a clinical course of at least six months). Secondary endpoints include: (a) safety; (b) presence of tissue core; (c) quality of specimens; (d) time of the sampling procedure. Reliability of macroscopic on-site evaluation (MOSE) by endosonographers will be also assessed. MethodsFROSENOR is an international randomized non-inferiority ongoing study at sixteen centers in four continents. Eight hundred patients will be randomized in two arms (EUS-FNB + ROSE vs. EUS-FNB alone) and outcomes compared. Sample size has been calculated in order to demonstrate the non-inferiority of FNB alone. Randomization and data collection will be performed online. DiscussionThis study will ascertain if ROSE is still needed when performing EUS-FNB of solid pancreatic lesions.

DNA Ligase IV Syndrome: A Rare Cause of Growth Failure & Hypogonadism

DNA ligase IV syndrome is a rare genetic disorder characterized by pronounced radiosensitivity, growth failure, pancytopenia, hypogonadism, and immunodeficiency. Here, we describe a unique case of DNA ligase IV syndrome diagnosed in adulthood and review the endocrine manifestations of this rare disorder. We present detailed clinical, laboratory, and exam findings and review the relevant literature. This patient initially presented in childhood with microcephaly, growth failure, and mild pancytopenia. At age 18, she developed secondary amenorrhea, with labs revealing hypergonadotropic hypogonadism. She was initially suspected to have Turner syndrome, but karyotype testing was normal. At age 34, genetic testing ultimately confirmed the diagnosis of DNA ligase IV syndrome. Severe growth failure and hypogonadism are important endocrine clues to the diagnosis of DNA ligase IV syndrome. The increased availability of genetic testing and whole-exome sequencing may allow for definitive diagnosis in patients that previously went unrecognized.

Performance of a calculator for diagnosing the cause of liver damage

Introduction/Objective. Making a calculator that would recognize patterns of abnormal liver function tests and link them to the most probable etiology could help clinicians in their initial orientation towards a definitive diagnosis in patients with liver damage. The aim of our study was to design, construct, and validate a calculator that based on a pattern of abnormalities in liver function tests of a patient with liver damage would propose the most probable etiology. Methods. Patterns of abnormal liver function tests for certain etiology of liver damage were extracted from distributions of actual values taken from reports in medical literature about patients whose etiology of liver damage was proven by reliable diagnostic tests. After setting up the calculator with the patterns extracted, its diagnostic value was checked under real-life conditions, on a sample of patients with liver damage whose etiology was established by the gold standard of diagnostics (biopsy or else). The calculator validation study was carried out at the Military Medical Academy in Belgrade during a two-year period (2015?2016). Results. For all tested diagnoses, the calculator demonstrated a highly significant difference between the area under the receiver-operator curves? values and the value of 0.5 (p &lt; 0.001), and high level of sensitivity (more than 90%, except for the model for chronic hepatitis) as well as relatively high specificity (more than 75%) were noted, indicating good ability of the calculator to detect etiology of liver damage. Conclusion. New calculators showed satisfactory sensitivity and specificity for revealing major liver damage etiologies.