Clear Diagnosis Research Articles

Infective endocarditis causing recurrent cerebral infarction, cerebral hemorrhage and septic meningitis: A case report.

We reported a rare case of recurrent cerebral infarction, intracerebral hemorrhage, and purulent meningitis, culminating in the diagnosis of a young patient with infective endocarditis who had been treated in 3 hospitals for a long course of illness for 8 months prior to diagnosis. It aims to enhance clinicians' understanding of the neurological complications caused by infective endocarditis. A 25-year-old male, student, was hospitalized for an 8-hour history of speech impairment and drooling with dysphagia. Magnetic resonance imaging (MRI) showed massive cerebral infarction in the right frontotemporal and insular lobes, and the first diagnosis was "cerebral infarction." Later, the patient developed recurrent cerebral infarction, intracerebral hemorrhage, and purulent meningitis. Recurrent cerebral infarction, intracerebral hemorrhage, and purulent meningitis were confirmed to be caused by infective endocarditis. The patient was treated with antiplatelet drugs such as aspirin and clopidogrel, mannitol to reduce intracranial pressure, and ceftriaxone and vancomycin to fight infection, and the patient's condition improved. The patient was diagnosed with infective endocarditis after 8 months without a clear diagnosis, and the patient was finally diagnosed with infective endocarditis during the final follow-up. Febrile patients should be aware of infective endocarditis, particularly if the fever is persistent of unknown origin or structural changes in the heart with neurologic lesions. Cardiogenic neurological diseases are relatively more severe, have a worse prognosis, and have a higher recurrence rate than primary neurological diseases, so early diagnosis and treatment are more urgently needed.

Effect of Biofeedback Combined with Psychotherapy on Functional Constipation Complicated with Anxiety and Depression.

Biofeedback combined with psychotherapy has been recognized as a potential treatment for patients with functional constipation, anxiety and depression disorder. To validate the therapeutic effect of the biofeedback therapy, 120 patients with a clear diagnosis of functional constipation combined with anxiety and depression disorder were recruited, and then randomly divided into the control group (patients received gastrointestinal medication and anti-anxiety and depression medication) and the treatment group (patients received combined biofeedback and psychotherapy on the basis of the control group's treatment program). The treatment group was treated with biofeedback exercise twice a day for 7 days, supplemented with psychotherapy for a period of 2 months (half-month intervals for one time). Intestinal medications in the treatment group were stopped after one month of treatment. While for the control group, patients were maintained with gastrointestinal motivational drugs, probiotics, anti-anxiety and depression medications. Both groups reduced the dosage of anxiolytics and depressants after 3 months. The control and the treatment group were both effective and the latter had a more significant effect compared to the former. Moreover, the anxiety/depression symptom for patients in the treatment group was significantly milder than those in the control group. Notably, compared with pre-treatment symptoms, the treatment group showed a significant reduction in Pittsburgh sleep quality index (PSQI) scores in the sixth month (F = 0.008, P = 0.008). In summary, biofeedback combined with psychotherapy may improve relieve constipation patients' clinical symptoms, anxiety/depression state and sleep quality. The treatment is durable, safe, and easy to implement, so it is suitable for widely used.

Epilepsy or Eclampsia in Differential Diagnosis of Recurrent Seizures in Pregnancy Aisyiyah Bojonegoro Hospital: A Diagnostic Dilemma? A Case Report

Seizures in pregnancy can lead to adverse maternal and perinatal outcomes, often arising from various factors necessitating clear diagnosis for effective therapy. Concurrent occurrence of multiple causative factors can complicate diagnostic and therapeutic decisions. We present a case of a 32-week pregnant woman with poorly managed epilepsy who experienced eclampsia and recurrent seizures. Treatment involved multiple medications and emergency cesarean delivery with meticulous blood pressure control. Close monitoring and therapy adjustment were crucial. Managing seizures in such cases poses a dilemma, necessitating initial focus on airway, breathing, and circulation stabilization. Immediate delivery of a viable fetus and maternal health maintenance are paramount. Anesthetic goals encompass seizure and blood pressure control, hemodynamic stability, and intensive care support for potential complications. While eclampsia is a significant factor, seizures in pregnancy may arise from diverse causes, demanding early diagnosis and tailored treatment for optimal patient outcomes.

Burnout: a comprehensive review

Burnout has been the focus of extensive scientific research. The World Health Organization officially recognized burnout as an occupational phenomenon, defined as a syndrome resulting from chronic workplace stress that remains unmanaged and characterized by three dimensions: exhaustion, cynicism, and inefficacy. Existing literature highlights limitations in current measurement instruments for diagnostic purposes. These tools often yield scores that overlap with other conditions such as fatigue, anxiety, and depression. Chronic exposure to high job demands and low job resources emerges as the primary trigger for burnout. While individual characteristics (such as neuroticism) may increase susceptibility, specific personality traits associated with higher risk remain unclear. Burnout has adverse effects on both individuals and organizations. Typical interventions focus on stress relief and coping strategies to manage high job demands, but their effectiveness diminishes over time. Evidence from organizational interventions suggests that improving employees’ working conditions can reduce burnout risk. Combined interventions offer promise by creating a healthy work environment while empowering employees to handle occasional stress. Social partners should advocate for support in researching burnout, aiming for a clear diagnosis, effective treatment, and preventive measures to mitigate psychosocial risks in the workplace.Practical Relevance: The findings of this article highlight the importance of addressing both job demands and job resources to mitigate burnout in organizational settings. Implementing interventions that improve working conditions and provide adequate support can significantly reduce burnout risk and enhance employee well-being. Organizations should prioritize creating a healthy work environment and empowering employees with the necessary resources to manage workload effectively.

A new nomogram for the evaluation of detrusor underactivity and bladder outlet obstruction in nonneurogenic female patients with lower urinary tract symptoms who undergo urodynamic studies.

Micturition physiology differs in men and women. However, the results in standard urodynamic studies in women with lower urinary tract symptoms (LUTS) were extrapolated from studies in men. Nowadays, the only validated nomogram for females is Solomon-Greenwell's. However, it only evaluated bladder outlet obstruction (BOO) without considering detrusor underactivity (DU). This study aims to create a nomogram that includes an evaluation of DU and BOO in nonneurogenic women and validate it against videourodynamic studies along with other nomograms. For the first analysis (creation cohort), we included 183 women with LUTS who underwent videourodynamic study between 2022 and 2023. Exclusion criteria were females with neurologic diseases, renal transplantation, and trouble performing the flow-pressure study. Baseline characteristics of the patients, urodynamic parameters, and classifications on different nomograms and indexes were evaluated. A logistic regression found Qmax and PdetQmax as predictors for DU and BOO. The Barco-Castillo nomogram was created by clustering analysis and adjusted by the results of the logistic regression. A second (test) cohort was evaluated from 2023 to 2024, including 142 patients for the validation of the nomogram. A p < 0.05 was considered significant. All urodynamic parameters were compared between both cohorts, with no significant differences. The median age of the creation cohort was 50 years old (interquartile range [IQR] 39-63). All patients had LUTS and a previous standard urodynamic study without a clear diagnosis. The cluster analysis had a p < 0.05 for two groups of BOO (yes/no) and two of DU (yes/no). We created the graph based on the logistic regression results and adjusted it according to the data. The median age of the test cohort was 44 years old (IQR 33.75-59) and had the same indication for the videourodynamic study. The receiver operating characteristic(ROC) curve for BOO showed an accuracy of 85.4% for Barco-Castillo nomogram, 68.5% for Blaivas-Groutz, 58.1% for Solomon-Greenwell, 57.1% for BOOI, and 50% for LinPURR. For DU, accuracy was 80.5% for PIP-1, 80.2% for Barco-Castillo, 76.6% for BCI, and 70.1% for LinPURR. When evaluating women's urodynamic studies, it is important to focus on female physiology and discourage the use of parameters previously standardized in men. We encourage using the new Barco-Castillo nomogram to determine BOO and DU in women as the currently easiest and more accurate tool.

Hereditary haemochromatosis: Prevalence and characterization of the disease in a tertiary hospital in Aragon, Spain

BackgroundThe main genetic cause of iron overload is haemochromatosis (HC). In recent years, the study of non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6) has become relevant thanks to next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) techniques. Our objectives were to estimate the prevalence of both HFE (C282Y/HY63D variants) and non-HFE variants attending a tertiary hospital in Aragón, to predict the effect of the variants on the protein, and to establish a genotype–phenotype correlation evaluating with the clinical context. MethodsRetrospective descriptive study from 2006 to 2020 of patients attended at genetic consultation in a reference hospital for HC in Aragon. We calculated prevalence of HFE and non-HFE variants. We analysed non-HFE genes (HFE2, HJV, HAMP, TRF2, SLC40A1, and BMP6), used bioinformatics tools, consulted different databases and measured clinical parameters (laboratory and imaging). ResultsThe prevalence of C282Y homozygous was 5.95% respect the total of cases and 0.025% respect our population. The prevalence of non-HFE HC variants was 1.94% respect the total of cases and 0.008% respect our population. We found 27 variants in non-HFE genes and 4 in HFE gene, of which 6 were classified as variant of uncertain clinical significance (VUS), or likely pathogenic or pathogenic according to the ACMG classification criteria. ConclusionOur prevalence results are as expected, and similar to those obtained by other studies. Although some of the genetic findings explain the clinical symptoms of some of our patients, we remain have a high number of patients without a clear molecular diagnosis.

Artificial intelligence-supported clear aligner orthodontic technology

With the advancement of digital healthcare and artificial intelligence (AI) technologies, the full automation of clear aligner orthodontic technology has become feasible. Significant research findings and commercial applications have emerged in areas such as intelligent diagnosis of multimodal orthodontic data, orthodontic treatment decision-making, automated generation of digital treatment plans, and remote intelligent monitoring. However, in the development and application of AI software, it is imperative to address issues related to clinical risks, target populations, and compliance with medical device software regulations. This article analyzes and summarizes the applications and challenges of AI in clear aligner orthodontic diagnosis, treatment, and production processes. Furthermore, it explores potential future trends in this field, providing valuable insights for clinical reference.

Enhancing the selection of heart failure patients for invasive procedures: how machine learning can predict the diagnostic yield of endomyocardial biopsy

Abstract Background Determining the etiology of heart failure (HF) is crucial for appropriate treatment. Endomyocardial biopsy (EMB) is an invasive procedure that complements clinical assessment and imaging in diagnosing various cardiac disorders. The diagnostic value of EBM depends upon the anticipated yield of the procedure. Whether results from non-invasive examinations may predict the diagnostic yield from EMB is unclear. Purpose We aimed to investigate the relative importance of clinical and instrumental features in predicting a diagnostic EMB result, using a machine learning (ML) approach. Methods We retrospectively examined 665 consecutive adult patients with HF symptoms who underwent right EBM as part of their diagnostic work-up. The primary outcome was a positive biopsy result with a clear diagnosis. The ML algorithm consisted of Gradient Boosting Machines (GBM), with computation of relative variable importance using conditional importance. We calculated the conditional variable importance for 53 clinical or instrumental variables. Model performance was evaluated using a receiver operating characteristic curve, which was compared to a logistic regression model using the same variables. Validation was performed using a 10-fold cross-validation model. Results Among the 665 patients (50±14 years, 67% male), the EMB provided a diagnosis in 138 cases (20.8%). Patients attaining diagnosis were more often older, had a shorter disease duration, presented with ventricular arrhythmia or cardiac arrest, had a pacemaker or defibrillator, displayed higher creatinine, NT-proBNP and high-sensitive troponin T levels, and had smaller ventricular volumes with higher ejection fraction at CMR. All patients with a diagnostic EMB showed late gadolinium enhancement (LGE) on cardiac magnetic resonance (CMR) in the right ventricle, the right atrium or in the left atrium. The relative importance of different variables predicting outcomes is presented in Figure 1. The top six included four distinct CMR features and two circulating biomarkers (NT-proBNP and high-sensitive troponin T). LGE in the right ventricle and the presence of left ventricular hypertrophy were stronger predictors compared to the remaining variables. The GBM model performed significantly better than the logistic regression model (AUC GBM 0.98, AUC logistic regression 0.93, DeLong’s test p&amp;lt;0.001) (Figure 2). Conclusion Using a ML algorithm, CMR LGE, left ventricular hypertrophy, and elevated cardiac biomarkers, stand out as strong overall predictors of an endomyocardial biopsy with a high diagnostic yield.Figure 1Figure 2

Role of negative transthoracic echocardiography in excluding infective endocarditis

Abstract Background Recent guidelines suggest an extensive role of transesophageal echocardiography (TOE) in the diagnostic work-up for suspected infective endocarditis (IE). However, the negative predictive value of transthoracic echocardiography (TTE) remains poorly investigated. Purpose The purpose of our study was to evaluate the accuracy of TTE in ruling out IE in order to avoid unnecessary TOE, a more invasive and expensive diagnostic exam. Methods We reviewed data of 637 consecutive patients referred to our laboratory of echocardiography with a suspected diagnosis of IE who underwent TOE within 14 days of TTE (median 4.4 days; interquartile range 2.4-7.4). For each patient we obtained age, sex, blood culture results, complete blood count, blood chemistry, evidence of systemic embolism or pulmonary embolism, and presence of moderate/severe heart valve disease, congenital heart disease, valve prostheses and intracardiac devices. Patients with initial doubtful findings at TOE were referred for a follow-up TOE after one week and/or 18F fluorodeoxyglucose positron emission tomography computed tomography to achieve a definitive clinical diagnosis. Patients in whom a clear diagnosis of IE could not be achieved (n=7) were considered to have the disease. Results Of the 637 patients enrolled, 375 had negative TTE for IE (59%). TOE was positive and doubtful for IE in 44 (12%) and 29 (8%) of these patients, respectively. After further assessment, a final diagnosis of IE was achieved in 56 patients (15%). Variables associated with IE at univariable analysis included presence of valve prostheses (p&amp;lt;0.001), systemic or pulmonary embolism (p&amp;lt;0.001), lower platelet count (p=0.003), positive blood culture (p=0.005), aortic valve regurgitation (p=0.02), aortic valve stenosis (p=0.03) and mitral regurgitation (p=0.03). At multivariable logistic regression, independent predictors of IE (OR=odds ratio; CI=confidence interval) included evidence of systemic or pulmonary embolism (OR 17.75, 95% CI 6.66-47.3, p&amp;lt;0.001), bioprosthetic heart valves (OR 2.93, 95% CI 1.31-6.53 p=0.023) and lower platelet count (OR 0.995, 95% CI 0.991-0.998, p=0.003). Among the subgroup of patients (n=183, 49%) with no evidence of embolism, no bioprosthetic valve and platelet count &amp;gt;190,000/mL (median value), IE was diagnosed in 11 patients only (6%). Conclusions In our study, a negative TTE in the subgroup of patients with suspected IE showing platelet count &amp;gt;190,000/mL and absence of embolism and valvular bio-prosthesis, had a negative predictive value for IE of 94%, suggesting that, in this subset of patients, TOE can initially be delayed and performed only if clinical suspicion continues to remain high.

Comprehensive Treatment of Impacted Teeth with Comprehensive Oral Clinical Diagnosis and Treatment Thinking

Impacted teeth are a common disease in oral surgery, which can be caused by systemic factors and local factors, and the incidence of different genders, races and tooth positions is different. The clinical manifestation of impacted teeth is the absence of permanent teeth in normal position. Cone beam CT can accurately diagnose and locate impacted teeth. At present, surgical fenestration or direct extraction are often used to treat impacted teeth, but the treatment effect and prognosis are not ideal enough. In the process of oral clinical diagnosis and treatment, doctors began to adopt comprehensive diagnosis and treatment thinking to solve problems, and the key to improve the success rate of oral disease treatment is to make a clear diagnosis, reasonably evaluate the difficulty of treatment and adopt appropriate correction methods. This paper summarizes the research status of impacted teeth in recent years, focusing on the multidisciplinary comprehensive treatment of impacted teeth, in order to improve the clinical comprehensive diagnosis and treatment thinking of dentists and provide reference for accurate treatment of impacted teeth and reduction of complications in the treatment process.

Epidemiology of Sports-Related Tendon Ruptures Presenting to Emergency Departments in the United States

Background: Participation in recreational and competitive sports can predispose people to musculoskeletal injuries. Chronic overuse with insufficient recovery, overloading, and direct contact can result in acute primary tendon ruptures. There is scarce literature regarding the epidemiology of sports-related acute primary tendon ruptures in the United States (US). Purpose: To identify the incidence rate (IR) of sports-related acute primary tendon ruptures presenting to US emergency departments using the National Electronic Injury Surveillance System (NEISS) database and describe the trends in the IR from 2001 to 2020. Study Design: Descriptive epidemiology study. Methods: The NEISS database was queried using injury case narratives; cases with a clear diagnosis of an acute primary tendon rupture were included in the final analysis. National estimates, estimated IRs (reported as per 1,000,000 person-years at risk), and temporal trends in the annual IR (reported as average annual percent change) of acute primary tendon ruptures were calculated using NEISS sample estimates and US Census Bureau population estimates. Results: An estimated total of 141,382 patients (95% confidence interval [CI], 107,478-175,286) presented to US emergency departments with a sports-related tendon rupture over the study period (IR, 22.9 person-years at risk [95% CI, 17.4-28.3]). The mean age was 37.7 years (95% CI, 37.0-38.5). Of all cases of a tendon rupture identified from 2001 to 2020, 60.1% were secondary to exercise/sports-related injury mechanisms. An Achilles tendon rupture was the most common injury, representing 55.9% of cases. Basketball was the most common sports-related injury mechanism, accounting for 36.6% of cases. The overall injury rate in male patients was 7.7 times that of female patients (IR ratio, 7.7 [95% CI, 4.4-13.5]; P < .05). The annual incidence of all sports-related tendon ruptures in the US increased significantly from 2001 to 2020 (average annual percent change, 1.9 [95% CI, 1.0-2.8]; P < .01). Conclusion: Recreational/competitive sports participation accounted for a large proportion of acute primary tendon ruptures in the US during the study period.

Results of surgical treatment of chronic pancreatitis with a high risk of developing pancreatic cancer

Objective. To analyze the results of surgical treatment of patients with pancreatic insufficiency and a high risk of developing pancreatic cancer. Materials and methods. The study included 39 patients treated in 2019–2023. In 20 (51%) patients, it was difficult to clearly differentiate between chronic pancreatitis and pancreatic cancer. In 19 (49%) patients, the diagnosis of chronic pancreatitis was not in doubt. All patients with complicated forms of chronic pancreatitis and suspected pancreatic tumor underwent a set of laboratory tests, and routine screening methods of instrumental diagnostics were used. In addition to standard methods of examination, the levels of matrix metalloproteinases and tissue inhibitor of metalloproteinases in the blood plasma were studied. Results. The method of intraoperative multiple biopsy, improved by us, was an obligatory component of surgical care for a clear differential diagnosis of chronic pancreatitis and pancreatic cancer. In the presence of complicated chronic pancreatitis, during surgery, the biopsy was taken using a special punch instrument that resembles a pen, along the entire length of the main pancreatic duct along the upper and lower edges of the dissection in a checkerboard pattern. There were no complications of punch biopsy. Of the 20 patients in whom it was not possible to clearly differentiate between chronic pancreatitis and pancreatic cancer, 12 (60%) were diagnosed with diabetes mellitus. The characteristic changes in the pancreatic tissue gave grounds for performing extended resection interventions in these patients. In the remaining 8 (40%) patients without morphological changes inherent in malignancy, Whipple operation (2), longitudinal pancreaticoduodenectomy (2), Frey operation (2), and our proposed central pancreatic resection with preservation of the left anatomical segment (2) were performed. Drainage and resectional surgical interventions were performed in 19 (49%) patients with complicated forms of chronic pancreatitis. After radical surgical interventions for pancreatic cancer, 1 patient developed gastrostasis, and on the 11th day he underwent a relaparotomy with reconstruction of the gastroenteroanastomosis, and on the 30th day a subhepatic abscess was diagnosed in 1 patient, who underwent drainage with a subcostal mini–access with a positive effect. In 2 patients, after left–sided pancreatic resection, subdiaphragmatic abscesses were diagnosed on the left, they were treated minimally invasively with punctures and drainage under ultrasound control. Multiple organ failure occurred in 1 patient after surgery for internal pancreatic fistula, infected ascites as a complication of neglected chronic pancreatitis. The patient died. Infection of the median laparotomy wound occurred in 4 patients, and healing was achieved by controlled primary tension. Class B pancreatic fistulas occurred in 3 patients: 2 – after left–sided pancreatic resection, 1 – after longitudinal pancreaticoduodenostomy. In 1 patient, a class C permanent pancreatic fistula was formed after a combined (resection and drainage) intervention. Relaparotomy, subtotal resection with Roux–en–Y loop closure was performed. Conclusions. Morphological changes in the pancreatic tissue in chronic pancreatitis in combination with diabetes mellitus, corresponding to the development of PanIN, are direct predictors of adenocarcinoma. Multiple intraoperative pancreatic biopsies are effective in verifying pancreatic malignancy. Pre– and intraoperative diagnostics make it possible to optimize the surgical treatment of complicated forms of chronic pancreatitis and prevent the development of postoperative pancreatic fistula.

Detection and Validation of Organic Metabolites in Urine for Clear Cell Renal Cell Carcinoma Diagnosis.

Clear cell renal cell carcinoma (ccRCC) comprises the majority, approximately 70-80%, of renal cancer cases and often remains asymptomatic until incidentally detected during unrelated abdominal imaging or at advanced stages. Currently, standardized screening tests for renal cancer are lacking, which presents challenges in disease management and improving patient outcomes. This study aimed to identify ccRCC-specific volatile organic compounds (VOCs) in the urine of ccRCC-positive patients and develop a urinary VOC-based diagnostic model. This study involved 233 pretreatment ccRCC patients and 43 healthy individuals. VOC analysis utilized stir-bar sorptive extraction coupled with thermal desorption gas chromatography/mass spectrometry (SBSE-TD-GC/MS). A ccRCC diagnostic model was established via logistic regression, trained on 163 ccRCC cases versus 31 controls, and validated with 70 ccRCC cases versus 12 controls, resulting in a ccRCC diagnostic model involving 24 VOC markers. The findings demonstrated promising diagnostic efficacy, with an Area Under the Curve (AUC) of 0.94, 86% sensitivity, and 92% specificity. This study highlights the feasibility of using urine as a reliable biospecimen for identifying VOC biomarkers in ccRCC. While further validation in larger cohorts is necessary, this study's capability to differentiate between ccRCC and control groups, despite sample size limitations, holds significant promise.

12572 Incidental Adrenal Enlargement On Ct Scan In South Brooklyn Health, How Often Is It Functional?

Abstract Disclosure: R. Ruggiero: None. N. Simon: None. Background: Incidental findings of adrenal hyperplasia are increased due to the widespread rise in cross sectional imaging, as well as improvement of imaging modalities. There is a lack of literature reporting on the prevalence of incidental adrenal hyperplasia. One study reported a prevalence of 11.3%. Adrenocortical hyperplasia can result from endocrine disorders such as ACTH dependent and independent Cushing syndrome, primary aldosteronism, Multiple Endocrine Neoplasia type 1, and congenital adrenal hyperplasia. Other reported causes are radiographic adrenal enlargement of unknown cause and without clinical or biochemical manifestations, inflammation, neoplasms, and depression. Most cases are a radiographic finding with no clinical significance. One study reported that 69.23% of cases were nonfunctional. There are currently no guidelines in place for biochemical evaluation of incidental adrenocortical hyperplasia. Patients are typically referred to endocrinology services. Objective: The purposes of this study was to: 1. Evaluate the number of patients referred to endocrinology clinic for incidental abnormal adrenal imaging. 2. Examine the percentage of abnormal adrenal imaging findings on CT scan, in particular adrenal hyperplasia, that are hormonally active. Methods: This was a retrospective study of patients who were referred to endocrinology clinic or electronic endocrine consult for incidental abnormal adrenal imaging, excluding those with clear diagnosis of masses, nodules, adenomas, or cysts. Data collected included demographics, type of study imaging and radiologist reader, hormonal studies, comorbid conditions such as diabetes mellitus, hypertension, obesity, osteoporosis, as well as visit type to endocrinology service (e-consult vs in person). Results: The total number of consults referred to endocrinology during this period was 138. Due to repeat referral or having an adrenal pathology other than hyperplasia, 83 patients were excluded from analysis. There were 55 patients with isolated adrenal hyperplasia, 86% of whom were Caucasian, 11% Hispanic, and 78% of patients were female. Median age 63 years old. Hypertension was noted in 69% of patients, 36% had diabetes mellitus or dysglycemia, 36% were obese, and 1.8% had osteoporosis. Imaging reading was performed by 3 radiologists, 75% of cases reported by one reader. Only 5% of referrals were answered as an e-consult. About 27% of patients did not show up to establish care. Hormonal workup was completed by 60% of the patients, with 16 % having abnormal findings. One patient required confirmatory workup. No patients required treatment. Conclusion: Adrenal Hyperplasia is often an incidental radiologic finding, that can be reader dependent. Most cases are nonfunctioning without abnormal findings on hormonal workup. E-Consultation can be an efficient tool to help PCP and reduce endocrine clinic visits. Presentation: 6/1/2024

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.

Congenital insensitivity to pain with anhidrosis (CIPA) (OMIM 256800) is a rare autosomal-recessive condition, also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV). The most commonly reported features include anhidrosis, intellectual disability, self-mutilation, febrile episodes, impaired temperature perception, recurrent infections and/or autonomic nervous system impairment. Major joint destruction and joint deformity known as Charcot (neuropathic) joints are also seen in CIPA patients attributed to insensitivity to joint pain. We present a case of a 46-year-old female affected with CIPA with a known NTRK1 variant and previously unidentified variant. Minigene reporter constructs were generated encompassing the exon 8 to exon 13 of the NTRK1 gene using the reference sequence and one harboring c.1483 + 5G > A variant identified in our proband. Minigene constructs were transfected into HEK293T cells, and the transcript was analysed for splicing to evaluate the effect of this variant in splicing. The patient (46-year-old female) exhibited right ankle joint deformity around 5 years of age. Patient also experienced lumbar compression and knee damage in adulthood. She had undergone a significant number of evaluations without clear diagnosis. Her presentation lacked many of the common clinical presentations of CIPA, and therefore, the focus of her evaluation was directed towards her unexplained joint deformities. Exome sequencing revealed a known pathogenic variant in NTRK1 (c.851-33T > A:p.? [Intron 7]) and a novel NTRK1 variant (c.1483 + 5G > A:p.? [Intron 11]), which was later re-classified as likely pathogenic. The patient was started on a biologic disease-modifying anti-rheumatic medication (bDMARD) due to a possible inflammatory etiology of her joint deformity. Molecular diagnosis allowed for modification of her treatment and surveillance strategies. Our minigene splicing assay demonstrated that the presence of the c.1483 + 5G > A variant has a negative effect on splicing, supporting the pathogenicity of this novel variant.

Diagnosis of a suspicious Spitzoid nevus

The mortality rate of cutaneous melanoma in the United States continues to increase year over year. Research supports that the development of melanoma is determined by genetics, the environment, and an individual’s behavior with certain phenotypic features, such as fair skin, red hair, multiple moles, and a prior history of sunburns, placing some individuals at greater risk of developing melanoma. New treatments have improved the survival rate of individuals with melanoma; however, the proper diagnosis of this deadly cancer is imperative. Histopathology remains the gold standard for diagnosing melanoma, sometimes with the help of immunohistochemistry staining. When a clear diagnosis cannot be made, genomic testing can be a helpful tool to differentiate between a benign and malignant lesion. Here, we present the case of a 27-year-old male patient with Fitzpatrick skin type III who presented to the dermatology clinic with a growing pink bump on his left upper arm. After a shave biopsy, the dermatopathologist reported that the lesion was a suspicious-looking Spitzoid nevus, for which a wide excision by surgical oncology was recommended. The immunohistochemistry staining did not secure a diagnosis of benign or malignant. As the diagnosis was inconclusive, the specimen was sent for a gene expression profile test, which came back positive, indicating malignant melanoma. This case illustrates how diagnostic and prognostic genomic testing can be used to identify a malignant melanoma and determine the likelihood of metastasis, thus guiding the patient's follow-up plan. It also illustrates how genomic testing might help the patient avoid unnecessary and costly medical procedures with potential side effects.

A study of pulmonary infectious and non-infectious complications in a pediatric hematopoietic stem cell transplantation (HSCT) center in Iran

Background: Pulmonary complications are important enough to notice in hematopoietic stem cell transplantation (HSCT). The patients undergoing HSCT might have infectious and non-infectious problems associated with morbidity and mortality. The pulmonary complications of HSCT are well-recognized in adults; however, studies on children are limited, especially in Iran. This study was done to evaluate the infectious and non-infectious pulmonary complications and the corresponding factors in children who underwent HSCT. Materials and Methods: This retrospective cohort study included the patients who underwent HSCT in Mofid Children’s Hospital in Tehran, Iran, during the years 2015 -2021. Overall, 144 medical files were evaluated, out of which 128 had undergone HSCT. The extracted data were about underlying diseases, age at transplant, sex, type of HSCT, donor type, cell source, conditioning regimen, graft versus host disease (GVHD) prophylaxis, infectious and non-infectious pulmonary complications, and associated factors. The data analysis was done by the SPSS software version 26. Chi-square, Fisher exact test and regression were also used for the analysis. Results: Infectious and non-infectious pulmonary complications were reported in 26 people (20.3%) and 11 people (8.6%), respectively. Positive coronavirus disease 2019 (COVID-19) PCR was detected only in two patients. Infectious complications were significantly lower in patients with neuroblastoma compared to other underlying diseases (2.7% vs. 27.5%, P = 0.002). These complications were significantly more frequent among those with other HSCT complications compared to those without such complications (34.6% vs. 16.7%, P=0.042). Non-infectious pulmonary complications were significantly higher in boys (13.5%) than in girls (1.9%) (P = 0.024). Conclusion: Due to the high rate of pulmonary infections in bone marrow transplant patients, clear differential diagnosis and diagnostic work are essential.

Female hyperandrogenism

Hyperandrogenism in women is a clinical syndrome resulting from an excess of circulating androgens in the blood. They can be produced either in the ovary or the adrenal gland. The clinical manifestations are highly variable. Patients present characteristic physical signs (alopecia, hirsutism, acne) as well as menstrual cycle irregularities. The most common cause of hyperandrogenism in women of childbearing age is polycystic ovary syndrome. There are specific criteria to establish a clear diagnosis of this syndrome. Nevertheless, in the presence of hyperandrogenism, a differential diagnosis must be made among other possible causes, such as congenital adrenal hyperplasia, use of drugs (anabolic agents), or the presence of androgen-secreting tumors. The specific treatment of this disease is usually chronic and aimed at controlling secondary symptoms of the disease, attempting to improve patients’ quality of life.

An STI rarely comes alone-An overview of sexually transmitted infections

Sexually transmitted infections (STI) or sexually transmitted diseases (STD) can be caused by bacteria, viruses, fungi, protozoa and arthropods. The most frequent bacterial STIs include Chlamydia infections, syphilis and gonorrhea; viral STIs include herpes genitalis (herpes simplex virus 1 and 2), human papillomavirus (HPV) and human immunodeficiency virus (HIV). An empathetic medical history taking in cases of a clinical suspicion can provide important information for adequate diagnostics. When an STI is detected, a complete screening for other STIs should be carried out. The STIs result in awide variety of symptoms and it is often difficult to make a clear diagnosis to a certain pathogen based on the clinical symptoms. To avoid reinfections, it is recommended to also test recent sexual partners. For certain pathogens highly effective postexposure prophylaxis or preventive vaccinations are available.

Anti-interferon gamma-inducible protein 16 antibodies: Identification of a novel autoantigen in idiopathic interstitial pneumonia and its clinical characteristics based on a multicenter cohort study

Autoantibodies are detected in idiopathic interstitial pneumonias (IIPs) without a clear connective tissue disease diagnosis, and their clinical significance is unclear. This study aimed to identify a novel autoantibody in IIPs. We screened 295 IIP patients using a 35S-methionine labeled protein immunoprecipitation assay. Candidate autoantigens were identified via protein array and confirmed by immunoprecipitation. Six sera from 295 IIP patients immunoprecipitated common tetrameric proteins (100 kDa). The protein array identified interferon gamma-inducible protein 16 (IFI16) as the candidate autoantigen. Patients with anti-IFI16 antibodies received immunosuppressants less frequently. Five-year survival rates were 50 %, 69 %, and 63 % (P = 0.60), and acute exacerbation-free rates were 50 %, 96 %, and 84 % (P = 0.15) for patients with anti-IFI16, anti-aminoacyl tRNA antibodies, and others. Anti-IFI16 is a novel autoantibody in IIPs. Patients with this antibody often receive less immunosuppressive therapy and could have a poor prognosis. Further research is needed to refine patient stratification and management.