Initial Workup Research Articles

Should Serum NMO Antibody Testing Be Part Of The Initial Work-up In Adult Onset Cerebellar Ataxia

Should Serum NMO Antibody Testing Be Part Of The Initial Work-up In Adult Onset Cerebellar Ataxia

Comparison and Utility of Intravenous Iodinated Contrast in Chest, Abdomen, Pelvis Computerized Tomography for Trauma Patients With Blunt Mechanism of Injury Before and After the May 9, 2022 Global Contrast Shortage at a Level II Trauma Center.

Background: Intravenous (IV) contrast improves the sensitivity and specificity of injury detection in computerized tomography (CT). Its use is recommended in the workup of trauma patients by the American College of Surgeons and American College of Radiology. On May 9, 2022, the Food and Drug Administration declared a shortage of iodinated contrast due to the COVID-19 pandemic. Although the shortage has ended, the temporary lack of IV contrast forced physicians to be prudent in ordering CT scans with IV contrast. We sought to determine if there was a change in the percentage of CT contrast studies performed during the contrast shortage and if this change affected patient outcomes.Methods: Retrospective chart review was performed on all adult tier 2 trauma patients at a 619-bed community-based level II trauma center who received CT chest, abdomen, and pelvis imaging as initial workup for blunt trauma from 5/9/2021-6/30/2021 (pre-shortage) and 5/9/2022-6/30/2022 (during shortage).Results: Patients were predominantly male with median age of 31-52 and of White or Hispanic ethnicity. Before the contrast shortage, all 110 trauma patients were scanned with contrast. During the shortage, 29 of 114 patients were scanned with contrast (P < 0.001). Injuries were identified in 59% of patients scanned with contrast (P < 0.001). There were no significant differences in blood transfusion needs, repeat CT, disposition, or mortality when comparing pre-shortage to during shortage or when comparing between non-contrast and contrast studies during the shortage.Discussion: There was a decrease in the percentage of CT contrast studies performed during the shortage. A higher percentage of injuries were identified in the patients scanned with contrast. However, there were no significant differences in patient outcomes. Certain trauma patients may be safely scanned without contrast.

Clinico-pathological factors associated with radioiodine refractory differentiated thyroid carcinoma status.

Risk factors for developing radioiodine refractory thyroid cancer (RAIR-TC) have rarely been analyzed. The purpose of the present study was to find clinical and pathological features associated with the occurrence of RAIR-disease in differentiated thyroid cancers (DTC) and to establish an effective predictive risk score. All cases of RAIR-DTC treated in our center from 1990 to 2020 were retrospectively reviewed. Each case was matched randomly with at least four RAI-avid DTC control patients based on histological and clinical criteria. Conditional logistic regression was used to examine the association between RAIR-disease and variables with univariate and multivariate analyses. A risk score was then developed from the multivariate conditional logistic regression model to predict the risk of refractory disease occurrence. The optimal cut-off value for predicting the occurrence of RAIR-TC was assessed by receiver operating characteristic (ROC) curves and Youden's statistic. We analyzed 159 RAIR-TC cases for a total of 759 controls and found 7 independent risk factors for predicting RAIR-TC occurrence: age at diagnosis ≥ 55, vascular invasion, synchronous cervical, pulmonary and bone metastases at initial work-up, cervical and pulmonary recurrence during follow-up. The predictive score of RAIR-disease showed a high discrimination power with a cut-off value of 8.9 out of 10 providing 86% sensitivity and 92% specificity with an area under the curve (AUC) of 0.95. Predicting the occurrence of RAIR-disease in DTC patients may allow clinicians to focus on systemic redifferentiating strategies and/or local treatments for metastatic lesions rather than pursuing with ineffective RAI-therapies.

Hepatic Artery Aneurysms in Infective Endocarditis: Report of 10 Cases and Literature Review

Hepatic artery aneurysms (HAAs), albeit rare in infective endocarditis (IE), are associated with a life-threatening morbidity. Retrospective review of 10 HAA-IE patients based on a total of 623 IE patients managed in 2 institutions (2008-2020) versus 35 literature cases. In our patient population, HAAs (10 males, mean age 48) were incidentally found during IE workup. All were asymptomatic. IE involved mitral (n=6), aortic (n=3), or mitral-aortic valve (n=1). Predisposing factors for IE were as follows: prosthetic valve (n=6), previous IE (n=2), IV drug user (n=1). Streptococcus species (spp.) were predominant (n=4), then staphylococcus spp (n=2) and E. faecalis (n=2). All patients presented associated lesions: infectious aneurysms (n=5), emboli (n=9), abscesses (n=5), and spondylitis/spondylodiscitis (n=2). HAA patterns on abdominal CT angiography (CTA) were solitary (70%), mean diameter 11.7mm (range 2-30), intrahepatic location (100%) involving the right HA in 9 out of 10 (90%) patients. In 2 patients, HAAs were complicated (rectorragia and hemobilia in 1, cholestasis in the other). Six patients underwent endovascular hepatic embolization (2 with multiple HAAs). Three HAA-IEs <15mm resolved under antibiotherapy on abdominal CTA follow-up. All patients underwent cardiac surgery. Late outcome was favorable in all followed patients (5/10). Literature review showed the preponderance of Streptococcus spp., of right lobe and intrahepatic HAA localization. Complications revealed HAAs in patients under antibiotic therapy and/or after cardiac surgery in 17 literature cases of delayed diagnosis. Abdominal CTA was pivotal in the initial IE workup. Small aneurysms (≤15mm) resolved under antibiotherapy. The usual treatment modality was HAA embolization and endovascular embolization before valve surgery was safe.

Is boarding compromising our residents' education? A national survey of emergency medicine program directors.

Boarding patients in the emergency department (ED) potentially affects resident education. Program director (PD) perceptions of the impact of boarding on their trainees have not been previously described. We surveyed a cross-sectional convenience sample of emergency medicine PDs using a mixed-methods approach to explore their perceptions of how boarding has affected their residents' training. Descriptive data were reported as percentages and differences were calculated using Pearson's chi-square test, with p < 0.05 considered significant. A framework model was used to qualitatively analyze free-text responses. A total of 170 responses were collected, for a response rate of 63%. Most respondents felt that boarding had at least some effect on resident education with 29%, 35%, 18%, and 12% noting "a little," "a moderate amount," "a lot," and "a great deal," respectively, and 5% noting "no effect at all." Respondents perceived a negative impact of boarding on resident education and training, with 80% reporting a "somewhat" or "extremely negative" effect, 18% feeling neutral, and 2% noting a "somewhat positive" effect. Most noted a "somewhat" or "extremely negative" effect on resident education in managing ED throughput (70%) and high patient volumes (66%). Fifty-four percent noted a "somewhat" or "extremely negative" impact on being involved in the initial workup of undifferentiated patients. Thirty-two percent saw a "somewhat" or "extremely positive" effect on learning the management of critically ill patients. Qualitative analysis of challenges, mitigation strategies, and resident feedback emphasized the lack of exposure to managing departmental patient flow, impact on bedside teaching, and need for flexibility in resident staffing. Most PDs agree that boarding negatively affects resident education and identify several strategies to mitigate the impact. These findings can help inform future interventions to optimize resident learning in the complex educational landscape of high ED boarding.

Changes in management of head and neck malignancies during the COVID-19 pandemic.

Despite multiple studies from high-income countries, reports from low- and middle-income countries on the impact of COVID-19 on head and neck cancer care remain sparse. This study aimed to assess the effects of the COVID-19 pandemic on head and neck cancer patients at a tertiary reference centre in Bosnia and Herzegovina. We included 228 patients with malignant head and neck tumours evaluated and treated between January 1, 2019, and December 31, 2021. Patient demographics, histological characteristics, and treatment modalities were retrospectively obtained and compared between the pre-pandemic period (pre-COVID-19 group) and the period after the implementation of COVID-19 restrictive measures (COVID-19 group). Patients were significantly older during the COVID-19 pandemic. In particular, 63 patients (44.7%) were under 65 and 78 (55.3%) were 65 or older, while in the pre-COVID-19 period, 53 patients (60.9%) were under 65 and 34 (39.1%) were 65 or older (p = 0.017). The pre-COVID-19 and COVID-19 groups did not significantly differ regarding other patient- and tumour characteristics, or primary treatment modalities. During the COVID-19 pandemic, significantly fewer patients were under 65 at the time of initial work-up, potentially reflecting the more enhanced disease-related anxiety of the younger population. Future studies are warranted to address this population's specific educational and psychological needs to ensure appropriate cancer care.

Pediatric Acne Vulgaris: A Guide for Recognition, Examination, Referral, and Treatment.

Acne is a common skin condition in adolescent patients but much less common in childhood. Pediatric providers should be familiar with the varying presentations in the pediatric population and recognize when additional physical signs of hyperandrogenism are present. This article details the pathogenesis and presentation of acne in infancy, mid-childhood, and preadolescence. The differential diagnosis is discussed and recommendations for initial workup, referral, and treatment are provided. [Pediatr Ann. 2024;53(4):e115-e120.].

Analyzing the Impact of Oncological Data at Different Time Points and Tumor Biomarkers on Artificial Intelligence Predictions for Five-Year Survival in Esophageal Cancer

AIM: In this study, we use Artificial Intelligence (AI), including Machine (ML) and Deep Learning (DL), to predict the long-term survival of resectable esophageal cancer (EC) patients in a high-volume surgical center. Our objective is to evaluate the predictive efficacy of AI methods for survival prognosis across different time points of oncological treatment. This involves comparing models trained with clinical data, integrating either Tumor, Node, Metastasis (TNM) classification or tumor biomarker analysis, for long-term survival predictions. METHODS: In this retrospective study, 1002 patients diagnosed with EC between 1996 and 2021 were analyzed. The original dataset comprised 55 pre- and postoperative patient characteristics and 55 immunohistochemically evaluated biomarkers following surgical intervention. To predict the five-year survival status, four AI methods (Random Forest RF, XG Boost XG, Artificial Neural Network ANN, TabNet TN) and Logistic Regression (LR) were employed. The models were trained using three predefined subsets of the training dataset as follows: (I) the baseline dataset (BL) consisting of pre-, intra-, and postoperative data, including the TNM but excluding tumor biomarkers, (II) clinical data accessible at the time of the initial diagnostic workup (primary staging dataset, PS), and (III) the PS dataset including tumor biomarkers from tissue microarrays (PS + biomarkers), excluding TNM status. We used permutation feature importance for feature selection to identify only important variables for AI-driven reduced datasets and subsequent model retraining. RESULTS: Model training on the BL dataset demonstrated similar predictive performances for all models (Accuracy, ACC: 0.73/0.74/0.76/0.75/0.73; AUC: 0.78/0.82/0.83/0.80/0.79 RF/XG/ANN/TN/LR, respectively). The predictive performance and generalizability declined when the models were trained with the PS dataset. Surprisingly, the inclusion of biomarkers in the PS dataset for model training led to improved predictions (PS dataset vs. PS dataset + biomarkers; ACC: 0.70 vs. 0.77/0.73 vs. 0.79/0.71 vs. 0.75/0.69 vs. 0.72/0.63 vs. 0.66; AUC: 0.77 vs. 0.83/0.80 vs. 0.85/0.76 vs. 0.86/0.70 vs. 0.76/0.70 vs. 0.69 RF/XG/ANN/TN/LR, respectively). The AI models outperformed LR when trained with the PS datasets. The important features shared after AI-driven feature selection in all models trained with the BL dataset included histopathological lymph node status (pN), histopathological tumor size (pT), clinical tumor size (cT), age at the time of surgery, and postoperative tracheostomy. Following training with the PS dataset with biomarkers, the important predictive features included patient age at the time of surgery, TP-53 gene mutation, Mesothelin expression, thymidine phosphorylase (TYMP) expression, NANOG homebox protein expression, and indoleamine 2,3-dioxygenase (IDO) expressed on tumor-infiltrating lymphocytes, as well as tumor-infiltrating Mast- and Natural killer cells. CONCLUSION: Different AI methods similarly predict the long-term survival status of patients with EC and outperform LR, the state-of-the-art classification model. Survival status can be predicted with similar predictive performance with patient data at an early stage of treatment when utilizing additional biomarker analysis. This suggests that individual survival predictions can be made early in cancer treatment by utilizing biomarkers, reducing the necessity for the pathological TNM status post-surgery. This study identifies important features for survival predictions that vary depending on the timing of oncological treatment.

Rapid Vision Loss Due to Multifocal Glioma: A Diagnostic Challenge.

This is a unique case report in medical literature for its detailing of diagnostics of an uncommon presentation of a rapid unexplained bilateral vision loss of a 73-year-old male diabetic patient. This report highlights the crucial role of advanced molecular diagnostics in difficult neurological cases and also elucidates the difficulties involved in diagnosing optic nerve glioblastoma, an exceptionally rare and aggressive tumour. Slow and progressive loss of vision over 2 months, ultimately developing almost complete visual impairment in both eyes and a defect of right eye field of vision conclusively highlighted that the likely etiology was neuro-ophthalmic. Initially, the conditions were suspected to be an extended spectrum of diabetic eye disease complications but further deterioration was a hint towards something more substantive. This entailed in-depth diagnosis processes that included an MRI and the analysis of cerebrospinal fluid. The important discovery was through stereotactic biopsies of the optic nerve revealing a high-grade glial neoplasm. Next generation sequencing confirmed the pathology as IDH-wildtype glioblastoma. Despite management, his vision continued to deteriorate. Hence, an aggressive clinical course was followed. This case highlights the important learning need in considering glioblastoma of the optic chiasm as part of the differential diagnosis of rapid vision loss, which may present as multifocal brain lesions, especially in casesof rapid loss of vision where initial workup is negative. Quite a useful lesson that can be drawn from this case relates to the diagnostic process with advanced molecular profiling, more attention given to clinical suspicion and cutting-edge diagnostic tools applied in atypical presentation of neurological conditions.

Prevalence and characteristics of known versus newly detected atrial fibrillation in ischemic stroke: a population-based study.

Atrial fibrillation (AF) is frequently diagnosed during the acute stage of ischemic (IS), and it may reflect undiagnosed AF before stroke, thus representing a missed opportunity for stroke prevention. This population-based study aimed to assess the prevalence of known AF (KAF) and AF diagnosed early after IS (AFDAS), and to compare clinical and brain/arterial imaging characteristics between patients. Among patients with acute IS recorded in the population-based Dijon Stroke Registry, France (2013-2020), we identified those with KAF or AFDAS. AFDAS was considered when AF was diagnosed during the initial work-up based on electrocardiograms, in-hospital continuous electrocardiographic and/or Holter monitoring. Clinical and imaging characteristics on brain CT-scan or angio-CT-scan when available including old parenchymal lesions, arterial territory of the index IS, and aortic arch, cervical and intracranial arteries atheroma were compared between groups (KAF versus AFDAS). Regression logistic models were used to assess factors associated with AFDAS (compared to KAF). Among 1756 IS patients, 550 (31.3%) had AF (mean age: 83.6 ±10.3 years old, 60.5% women), of whom 367 (66.7%) presented with KAF and 183 (33.3%) had AFDAS. In multivariable model, hypertension (OR=0.37; 95% CI: 0.21-0.64, p<0.001), chronic heart failure (OR=0.34; 95% CI: 0.18-0.67, p=0.002), previous stroke (OR=0.42; 95% CI: 0.26-0.67, p<0.001), and preexisting dementia (OR=0.36; 95% CI: 0.21-0.63, p<0.001), were inversely associated with AFDAS, whereas NIHSS score was associated with AFDAS (OR=1.02; 95% CI: 1.00-1.05, p=0.012). Our findings indicate a more advanced stage of the atrial cardiomyopathy in KAF as compared with AFDAS patients, and may thus contribute to the fact that in these latter patients AF had not been diagnosed prior to stroke. This group of patients undeniably represents a missed opportunity for stroke prevention.

Noninvasive Tests for Bladder Cancer Detection and Surveillance: A Systematic Review of Commercially Available Assays

BACKGROUND: An important reason for the high health care costs associated with bladder cancer is the need for frequent cystoscopy for detection and surveillance of this disease. Cytologic analysis of voided urine specimens can assist, but is too inaccurate to replace cystoscopy. In an effort to create reliable, objective, noninvasive mechanisms for detecting bladder cancer, a number of urine-based molecular tests have been developed with the ultimate goal of reducing the frequency of cystoscopy. OBJECTIVE: To summarize the performance of urine-based biomarker tests, currently commercially available in the US, as part of the initial workup for hematuria and for bladder cancer surveillance. METHODS: In accordance with PRISMA guidelines we performed a systematic review of the literature on the performance of NMP22, BTA, UroVysion, ImmunoCyt/uCyt, CxBladder, and Bladder EpiCheck. Median sensitivity, specificity, negative (NPV) and positive predictive values (PPV) were calculated for each test based on the included studies. RESULTS: Twenty-eight studies met inclusion criteria for the performance of five urine-based biomarker tests in the setting hematuria workup. Median sensitivity ranged from 65.7% –100% and specificity ranged from 62.5% –93.8%. Median NPV ranged from 94.2% –98.3% and PPV ranged from 29% –58.7%. Fourteen studies met inclusion criteria for the performance of six tests in the setting of bladder cancer surveillance. Median sensitivity ranged from 22.6% –92.0% and specificity from 20.5% –97.9%. Median NPV ranged from 52.9% –96.5% and PPV ranged from 48.1% –75.7%. CONCLUSIONS: Our analysis finds that while these tests may provide some clinical utility, none of the assays have thus far demonstrated objective evidence to supplant the gold diagnostic standard.

Comparison of Transoral and Transcervical Ultrasonography with MRI for the Diagnostic Work-Up of Oropharynx Tumors: A Protocol for a Multicenter Clinical Trial (SPOTUS).

This study protocol for a prospective, multicenter, diagnostic, clinical trial describes the integration of transoral and transcervical ultrasonography (US) in the initial clinical work-up of patients referred to tertiary head and neck cancer centers with suspected oropharyngeal cancer. The study evaluates the blinded detection rate of oropharyngeal tumors and their US-estimated size and T-stage before histopathology and cross-sectional imaging are available. Magnetic resonance imaging (MRI) scans will be prospectively rated while blinded to T-site histopathology and US. The primary outcome measures of diagnostic accuracy, including sensitivity, specificity, positive and negative predictive values, and overall accuracy, will be reported for both US and MRI. A sub-analysis of prospectively rated 18F-Fluorodeoxyglucose (FDG) positron emission tomography/computerized tomography (PET/CT) scans in patients with clinically suspected unknown primary tumors will also be compared to US and MRI. Secondary outcome measures, including a comparison of tumor size estimation between US, MRI, and CT, will also be reported. This prospective multicenter study will provide clinically impactful information regarding the use of transoral and transcervical US for the diagnostic work-up of oropharyngeal cancer.

Pattern of body fat distribution in patients of PCOS using DEXA-based indices

BackgroundConsidering the close link between polycystic ovary syndrome (PCOS) and metabolic syndrome considerable research has been devoted to studying the pattern of fat distribution in PCOS.ObjectivesThe study aims to assess the usefulness of dual-energy X-ray absorptiometry (DEXA) based regional fat distribution indices as a predictor of the development of PCOS.MethodsThis case–control study recruited diagnosed cases of PCOS using Rotterdam Criteria (cases n = 86) and healthy age-matched controls (n = 90). DEXA was performed in both groups for assessment of total and regional body fat distribution after undergoing ultrasonography (USG) and baseline/biochemical evaluation.ResultsThe study revealed a significant difference between cases and controls in trunk fat percentage (40.2% ± 9.1% vs 26.5% ± 9.1%; p < 0.001), android fat percentage (42.4% ± 41%vs 27.8% ± 1.51%; p < 0.001), total fat percentage (43.8% ± 8% vs28.5% ± 1.6%; p < 0.001), fat mass/ht2 (fat mass index) (8.82 ± 3% vs 4.8 ± 1.7%; p < 0.001), android/gynoid ratio (1.05 ± 0.1 vs 0.7 ± 0.2; p < 0.001), and trunk/limb fat mass ratio (1.06 ± 0.3 vs 0.69 ± 0.3; p 0.001). Multivariate analysis revealed a significant relation of trunk fat mass with android % fat, gynoid fat mass, and android-gynoid ratio.ConclusionsThe study demonstrates that there is a central pattern of fat distribution in patients with PCOS while the overall fat might not be increased which is well analyzed by DEXA. Hence, we suggest its use in the initial diagnostic workup and follow-up of PCOS patients for their body fat distribution and content.

A case of lung FNA with atypical squamous cells.

Fine-needle aspiration (FNA) is a commonly employed method for initial diagnosis and work-up of pulmonary nodules. Utilization of rapid on-site evaluation (ROSE) has the added benefit of allowing for triaging of material as appropriate for ancillary studies including microbiology testing. While many pulmonary lesions are easily categorized by cytologic evaluation, more difficult cases exist. In particular, pulmonary lesions demonstrating atypical squamoid cells can cause diagnostic challenge given the morphologic overlap between benign and malignant pulmonary lesions showing atypical squamoid cells. We herein review these common and uncommon squamoid lesions, which may enter within the differential when encountering atypical squamoid cells in pulmonary FNA specimens with emphasis on morphologic pitfalls and approaches to appropriate categorization.

Serum Tumor Markers and Outcomes in Patients With Appendiceal Adenocarcinoma

Serum tumor markers carcinoembryonic antigen (CEA), carbohydrate antigen 19-9 (CA19-9), and cancer antigen 125 (CA125) have been useful in the management of gastrointestinal and gynecological cancers; however, there is limited information regarding their utility in patients with appendiceal adenocarcinoma. To assess the association of serum tumor markers (CEA, CA19-9, and CA125) with clinical outcomes and pathologic and molecular features in patients with appendiceal adenocarcinoma. This is a retrospective cohort study at a single tertiary care comprehensive cancer center. The median (IQR) follow-up time was 52 (21-101) months. Software was used to query the MD Anderson internal patient database to identify patients with a diagnosis of appendiceal adenocarcinoma and at least 1 tumor marker measured at MD Anderson between March 2016 and May 2023. Data were analyzed from January to December 2023. Association of serum tumor markers with survival in patients with appendiceal adenocarcinoma. Cox proportional hazards regression analyses were also performed to assess associations between clinical factors (serum tumor marker levels, demographics, and patient and disease characteristics) and patient outcomes (overall survival). A total of 1338 patients with appendiceal adenocarcinoma were included, with a median (range) age at diagnosis of 56.5 (22.3-89.6) years. The majority of the patients had metastatic disease (1080 patients [80.7%]). CEA was elevated in 742 of the patients tested (56%), while CA19-9 and CA125 were elevated in 381 patients (34%) and 312 patients (27%), respectively. Individually, elevation of CEA, CA19-9, or CA125 were associated with worse 5-year survival; elevated vs normal was 81% vs 95% for CEA (hazard ratio [HR], 4.0; 95% CI, 2.9-5.6), 84% vs 92% for CA19-9 (HR, 2.2; 95% CI, 1.4-3.4), and 69% vs 93% for CA125 (HR, 4.6; 95% CI, 2.7-7.8) (P < .001 for all). Quantitative evaluation of tumor markers was associated with outcomes. Patients with highly elevated (top 10th percentile) CEA, CA19-9, or CA125 had markedly worse survival, with 5-year survival rates of 59% for CEA (HR, 9.8; 95% CI, 5.3-18.0), 64% for CA19-9 (HR, 6.0; 95% CI, 3.0-11.7), and 57% for CA125 (HR, 7.6; 95% CI, 3.5-16.5) (P < .001 for all). Although metastatic tumors had higher levels of all tumor markers, when restricting survival analysis to 1080 patients with metastatic disease, elevated CEA, CA19-9, or CA125 were all still associated worse survival (HR for CEA, 3.4; 95% CI, 2.5-4.8; P < .001; HR for CA19-9, 1.8; 95% CI, 1.2-2.7; P = .002; and HR for CA125, 3.9; 95% CI, 2.4-6.4; P < .001). Interestingly, tumor grade was not associated with CEA or CA19-9 level, while CA-125 was slightly higher in high-grade tumors relative to low-grade tumors (mean value, 18.3 vs 15.0; difference, 3.3; 95% CI, 0.9-3.7; P < .001). Multivariable analysis identified an incremental increase in the risk of death with an increase in the number of elevated tumor markers, with an 11-fold increased risk of death in patients with all 3 tumor markers elevated relative to those with none elevated. Somatic mutations in KRAS and GNAS were associated with significantly higher levels of CEA and CA19-9. In this retrospective study of serum tumor markers in patients with appendiceal adenocarcinoma, CEA, CA19-9, and CA125 were associated with overall survival in appendiceal adenocarcinoma. Given their value, all 3 biomarkers should be included in the initial workup of patients with a diagnosis of appendiceal adenocarcinoma.

État des lieux des connaissances des internes et chefs de clinique d’urologie sur la prise en charge neuro-urologique des patients spina bifida en France

ObjectiveTo assess the current knowledge of French urology residents and fellows about neurogenic lower urinary tract dysfunction and their management in patients with spina bifida. Material and methodA 7-question questionnaire, covering the responder's experience and the various stages in the neuro-urological management of spina bifida, was drafted by an expert urologist. Responses were collected within 5days of being e-mailed to members of the Association française des urologues en formation (AFUF), and a descriptive analysis was carried out. ResultsOf the 448 members, 155 completed the questionnaire. Of the participants, 83.8% said they knew the definition of spina bifida, and 76.8% had already had to care for a spina bifida patient. Of the participants, 48.4% correctly estimated the number of spina bifida patients in France. Neurogenic lower urinary tract dysfunction to look for and the specificities of management seemed to have been acquired by a majority of respondents (correct response rates of 70.7% and 75.4%, respectively), unlike the extra-urological aspects (53.9%), and the choice of examinations useful for the initial work-up and follow-up (55.8%). ConclusionWhile the expected neurogenic lower urinary tract dysfunction and the specificities of therapeutic management of spina bifida patients appear to be well known to urologists in training, knowledge of extra-urological symptoms and the choice of examinations could be improved. These results could be used to adjust the teaching given to French urologists in training on the urological management of spina bifida patients. Level of evidenceGrade 4.

Paraneoplastic Syndrome: A Missed Diagnosis

AbstractParaneoplastic syndrome can involve a single organ or diverse organ systems. It is one of the rare manifestations of occult malignancy. A 47-year-old female patient with history of recent suspected herpes infection presented with features of extensive skin darkening and thickening, associated with poor swallowing and cough reflex. Patient was not able to lift both arms nor able to sit or stand which was suggestive of proximal muscle weakness involving the shoulders and hip. Patient's initial workup for autoimmune disorders including dermatomyositis was negative. With paraneoplastic syndrome as differential diagnosis contrast-enhanced computed tomography chest and abdomen and tumor markers CA125 and CA19.9 done showed no evidence of occult malignancy. Patient was started on empirical steroids for polyradiculoneuropathy. After starting steroids patients was able to sit and walk with support. Patient was able to swallow liquids without aspiration. On regular follow-up over a period of 3 months, patient developed abdomen pain and abdominal distention which on evaluation showed ascites and multiple new cystic ovarian lesions suggestive of ovarian malignancy. Patient's CA125 was repeated and was markedly elevated. Patient was referred to an oncologist and was started on chemotherapy along with immunosuppressants. This case report emphasizes the need for regular follow-up of patients suspected of paraneoplastic syndrome. Although the initial workup for malignancy did not give a clue, on periodic review we were able to make the primary diagnosis and start appropriate treatment and achieve a better patient survival.

Pericardial effusion in a patient of celiac disease and hypothyroidism: A case report

Celiac disease (CD) can be defined as an autoimmune chronic disorder in gluten-intolerant individuals producing malabsorption of nutrients and vitamins. The presence of CD in individuals causes an alteration in the absorption and pharmacokinetics of certain drugs. This poses a great challenge in maintaining serum thyrotropin levels in hypothyroidism patients on replacement therapy with levothyroxine (LT4). In this report, we present the case of a 39-year-old woman with hypothyroidism, pericardial effusion, and (previously unrecognized) CD. Our patient was a known case of hypothyroidism with a history of previous hospitalization for an episode of acute gastroenteritis. In our clinic, after an initial workup, the patient was continued on LT4 supplement, oral iron, and multivitamins. During her follow-up visit, when an anti-tissue transglutaminase IgA-positive report was available, a gluten-free diet was advised. Following this, the clinical condition of the patient improved drastically, accompanied by a fall in elevated thyroid-stimulating hormone (TSH) levels. This case highlights the necessity of understanding the etiology of rising serum TSH levels, hence ruling out malabsorption. Pericardial effusion, being a rare complication of hypothyroidism and CD, may lead to adverse cardiac events, hence resulting in hospitalization and patient disability.

Successful pregnancy outcome via in-vitro fertilization and laparoscopic resection of non-communicating rudimentary horn pregnancy containing early pregnancy: a case report

BackgroundNon-communicating rudimentary horn pregnancy (NCRHP) lead to life-threatening condition for both mother and fetus. Early diagnosis of NCRHP and laparoscopic resection is important to prevent catastrophic conditions. However, delayed diagnosis until the second or third trimester makes it difficult to accurately diagnose between NCRHP and bicornuate uterine pregnancy, as both conditions present uterine rupture and massive hemoperitoneum. Furthermore, these rare cases are challenging in pregnancy trials and associated with adverse outcomes in subsequent pregnancies.Case presentationA 31-year-old gravida 1 para 0 Korean woman visited our infertility center with a confirmed positive urine pregnancy test after timed intercourse. Before she was scheduled to have timed intercourse, a unicornuate uterus with a non-communicating right uterine horn was suspected based on an ultrasound scan and hysterosalpingography during the initial infertility workup. A gestational sac was observed in the right non-communicating rudimentary horn at 5 weeks of gestation. Serum beta-human chorionic gonadotropin (b-hCG) level was 2052.0mIU/mL. An elective laparoscopic resection of the right rudimentary horn containing a gestational sac, along with ipsilateral salpingectomy, was performed with no adverse event. After 3-month of recovery period and three cycles of conceptional trials involving timed intercourse and intrauterine insemination, in-vitro fertilization (IVF) was performed using the antagonist protocol, and successful pregnancy was confirmed. The patient had been hospitalized from 21 + 6 weeks to 35 + 6 weeks of gestation, underwent cerclage placement and tocolytics with corticosteroid treatment. She delivered an early-term male baby by cesarean section.ConclusionIn this rare case, the successful pregnancy achieved through IVF following the appropriate management of NCRHP under laparoscopy underscores the critical importance of early diagnosis and intervention in cases of NCRHP. Timely identification and management of NCRHP are vital to prevent the occurrence of catastrophic conditions and to enhance the prognosis of a successful pregnancy through assisted reproductive technology (ART). Therefore, a high index of suspicion for NCRHP is important and employs a range of diagnostic modalities.

[Hypercalcemia: a practical review].

Hypercalcemia, defined as an abnormal elevation of serum calcium, is a common electrolyte anomaly in primary care, affecting almost 1% of the worldwide population. Clinical manifestations concern the neuromuscular, cardiovascular, gastrointestinal, renal and skeletal systems. Among the causes, the main ones are primary hyperparathyroidism, and malignancies. Le initial workup should include the measurement of parathyroid hormone (PTH), and the discontinuation of any medication likely to be involved in iatrogenic hypercalcemia. The chosen treatments and their speed of introduction depend mainly on the severity of hypercalcemia. They include intravenous rehydration, and antiresorptive agents such as bisphosphonates, denosumab or calcitonin.