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Assessing lymphocyte function is integral to the diagnostic evaluation of patients with immune system disorders, be they primary immunodeficiencies or immune dysregulation conditions due to single or multiple gene defects. Additionally, secondary immune deficiencies are on the rise with the widespread use of potent biological immunomodulatory regimens and chemotherapies in the areas of cancer, autoimmunity, and allergic diseases and in primary immunodeficiencies with immune dysregulation. All of these require a comprehensive approach to characterizing the immune system, quantitatively and qualitatively as well as functionally, using a variety of investigative tools. This chapter focuses on the latest advances in assessing lymphocyte function in T cells, regulatory T (Treg) cells, B cells, regulatory B (Breg) cells, and natural killer (NK) cells.

International audience; Young children are most vulnerable to develop severe forms of tuberculosis (TB) and are over-represented among TB deaths. Almost all children estimated to have died from TB were never diagnosed or offered TB treatment. Improved access to TB preventive treatment (TPT) requires major upscaling of household contact investigation with allocation of adequate resources. Symptom-based screening is often discouraged in adults for fear of generating drug resistance, if TB cases are missed. However, the situation in vulnerable young children is different, as they present minimal risk of drug resistance generation. Further, the perceived need for additional diagnostic evaluation presents a major barrier to TPT access and underlies general reluctance to consider pragmatic decentralised models of care. Widespread roll-out of Xpert MTB/RIF Ultra® represents an opportunity for improved case detection in young children, but attaining full impact will require the use of non-sputum specimens. The new Fujifilm SILVAMP TB LAM® urine assay demonstrated good diagnostic accuracy in HIV-positive and malnourished children, but further validation is required. Given the limited accuracy of all available tests and the excellent tolerance of TB drugs in children, the global community may have to accept some over-treatment if we want to close the persistent case detection gap in young children.

Objective ‒ to evaluate the features of the clinical manifestations and effectiveness of multi-slice computed tomography (MSCT) of the head for the diagnosis of non-penetrating gun-shoot head injuries in the local war.Materials and methods. The medical data of 155 patients who received a non-penetrating gun-shoot head injuries during the war in the Eastern Ukraine between 2014‒2020 were analyzed. All patients were males between 18 and 60 years (average age ‒ 35.1 years). The peculiarities of clinical manifestations and results of diagnostic evaluation of non-penetrating gun-shoot head injuries during specialized neurosurgical care in medical institutions on the third and fourth levels of medical aid have been studied.Results. Wide diagnostic capabilities of MSCT were revealed for determination of the wounds localization, type of the projectile, the nature of the wound channel, gunshot skull fractures, and associated intracranial injuries. It was found that with non-penetrating bullet and shrapnel tangential cranio-cerebral wounds, incomplete and depressed fractures usually occurred, and with single and multiple shrapnel blind wounds, incomplete ‒ perforated and depressed fractures with the presence of bone fragments. The pathomorphological features of the nature of the wound channels and intracranial injuries were determined. They are always associated by traumatic subarachnoid hemorrhages and brain contusions, in most cases – focal. Intracranial hematomas were observed in 3.1 % of the patients.Conclusions. Clinical manifestations of the non-penetrating craniocerebral gunshot wounds depend not only on the type of cranial soft tissue injury, but also on the nature of the skull fracture and are mainly occurred because of the severity of the traumatic brain injury. MSCT of the head makes it possible to determine the localization of the wound, the type of the wounding projectile, the nature of the cranial soft tissues damage, wound channel, gunshot skull fractures and associated intracranial injuries.

Ependymomas comprise approximately 10 percent of childhood CNS malignancies and are associated with dismal outcomes if metastatic, incompletely resected, or recurrent.1 Standard therapy consists of maximal safe surgical resection followed by focal irradiation.2 Recurrent fusion genes involving C11orf95-RELA or YAP1 have been identified in supratentorial ependymomas, but targetable molecular lesions are rare.3,4 Here, we report a sustained response to larotrectinib in a pediatric patient with a histologic diagnosis of recurrent metastatic anaplastic ependymoma, whose molecular testing unexpectedly revealed a KANK1-NTRK2 fusion and methylation profile most consistent with pleomorphic xanthoastrocytoma (PXA). This case highlights the potentially profound clinical implications of integrating genomic profiling into the diagnostic evaluation of pediatric CNS tumors.

In this study, we examine the mother tongue proficiency of pre-school children from high-income and highly educated families in Antalya, Turkey. The study used the Turkish version of the Hamburger Instrument for the Analysis of the Language Level of 5-year olds (HAVAS 5) linguistic-level diagnostic tool that is originally employed to form the basis of individually customized language support programs. The study group of this research was made up of 41 pre-school children (n= 41; 29 boys, 12 girls). Furthermore, a semi-structured interview (SSI) form was developed by the authors and finally conducted with 3 mothers and their husbands (n=6). Our study results show that the majority of the children (33/41) from high-income and highly educated families showed an advanced level of language proficiency especially in the realm of vocabulary acquisition. In particular, the children were observed to be self-confident when using their mother tongue and that they did not hesitate to take initiatives during the HAVAS 5 storytellings. Our qualitative results suggest also that a small group of children who are either introverts or having lower level language proficiency may have a specific trait, condition or characteristic. Based on the data from interviews, emotional atmosphere of the family, parenting styles, speech sound disorder (SSD) or excessive screen-based media use might reasonably be suspected of having some influence on mother tongue proficiency.

Background: Since the prevalence and awareness AutismSpectrum Disorders (ASD) is growing day by day, it is crucial to correctly allocate diagnosis of ASD. According to the guidelines, there should be a multi-agency strategy group for diagnosis of ASD. Aim: To find out the diagnostic practices of ASD among different Health Professionals. Place and Duration of Study: Riphah International University, Lahore campus. The study was conducted from October 2017 till March 2018. Methodology: Data was collected from 116 professionals which included Speech-Language Pathologists, Pediatricians, Psychiatrists, Psychologists and Occupational Therapists by using questionnaire. A cross-sectional survey was carried out by using the technique of convenient sampling. Researcher collected the data from Riphah International University in person and some professionals were sent questionnaires online. Results: Majority of professionals provide diagnostic service i.e. 84.4% as a part of multidisciplinary team whereas 15.6% are sole practitioners for giving diagnosis; 51.1% collaborate with other professionals to make a consensus diagnosis and the most frequently used tool by professionals for diagnosing ASD is Childhood Autism Rating Scale CARS (76.7%) and Diagnostic and Statistical Manual of Mental Disorders V/IV (DSM V OR IV) criteria (67.8%). Conclusion: The professionals in the current study are using multidisciplinary approach for diagnosing ASD and a small number are sole practitioners. The most frequently used tool for diagnosing ASD are CARS and DSM V OR IV criteria. However, very few practitioners use the diagnostic tool Autism Diagnostic Observation Schedule ADOS and Autism Diagnostic Interview-Revised ADI-R. The professionals who provide diagnosis of ASD are Speech and language Pathologists, Psychologists, pediatricians, psychiatrists and Occupational therapists.

The aim of the study is the assessment of accuracy for the diagnostic evaluation of Wilms tumor in the pediatric population in the era of contrast-enhanced CT scan using histopathology as a gold standard. Plain and contrast-enhanced abdominal Computed Tomography including pelvis and chest was performed in suspected patients with multiple axial sections with sagittal and coronal reconstructions. Patients were being followed, data was collected and recorded on proforma after histopathology. The patient's mean age for this study in years was 3.5 ± 1.2. Gender distribution showed 170 patients (54.6%) were male while the remaining 141 patients (45.33%) were female. Contrast-enhanced computed tomography showed sensitivity (90.36%), specificity (51.72%), diagnostic accuracy (72.34%), positive predictive value (68.18%), and negative predictive value (82.42%) confirmed on Histopathology as the gold standard. It is concluded from the results of this study that contrast-enhanced computed tomography proved high diagnostic accuracy positive predictive in the detection of Wilms’ tumor by taking histopathology as the gold standard.

In children with arterial ischemic stroke (AIS), the definitive diagnosis of stroke subtype and confirmation of stroke etiology is necessary to mitigate stroke morbidity and prevent recurrent stroke. The common causes of AIS in children are sharply differentiated from the common causes of adult AIS. A comprehensive, structured diagnostic approach will identify the etiology of stroke in most children. Adequate diagnostic evaluation relies on advanced brain imaging and vascular imaging studies. A variety of medical and surgical secondary stroke prevention strategies directed at the underlying cause of stroke are available. This review aims to outline strategies for definitive diagnosis and secondary stroke prevention in children with AIS, emphasizing the critical role of neuroimaging.

Introduction: Imaging studies have shown enlargement of pancreatic parts in children diagnosed with acute pancreatitis. The purpose here is to develop imaging based diagnostic evaluation criterion for acute pancreatitis in children. Materials and Methods: This study included 62 children of acute pancreatitis in the age range of 0.33 to 13 years, as reported in a single hospital center (1994-2019). A study was planned including 1116 normal healthy children in the age range of 0.16 to 18 years for pancreatic evaluation during 2016-17. Ultrasonography based measurement of three pancreatic parts were obtained for each individual in disease and normal groups. Age-adjusted receiver operating characteristics curve analysis was performed on each pancreatic part independently to derive respective cut-offs using a training set. These cut-offs were further referred to dichotomize the measurement data for each individual and was subjected to multiple logistic regression with presence/absence of acute pancreatitis as dependent variable. A probability score and accordingly the cut-off were obtained indicating a collective impression of enlargement of pancreas in disease condition independently for males and females. Result: On test data, the accuracy of age-adjusted cut-offs for three parts was near 80% for males, while it ranged between 81-85% for females. ROC analysis of probability score resulted into threshold value of 0.024 for males and 0.044 for females, with sensitivity of 94.11% and 90.91% respectively. The classification accuracy of score derived for males and females was nearly same (83%). Conclusion: The extent of enlargement of pancreas in acute pancreatitis in children can be determined using the MLR method along with hypoechogenicity. Keywords: Amylase, Computed Tomography, Gastroenterology, Lipase, Multiple logistic regression, Radiology and Receiver operating, characteristics curve.

This study examined the feasibility and acceptability of a telehealth diagnostic model deployed at an autism center in the southwestern United States to safely provide autism spectrum disorder (ASD) diagnostic evaluations to children, adolescents, and adults during the COVID-19 pandemic. Participants included all clients for whom a telehealth diagnostic evaluation was scheduled at the diagnostic clinic (n = 121) over a 6-month period. Of 121 scheduled clients, 102 (84%) completed the telehealth evaluation. A diagnostic determination was made for 91% of clients (93 out of 102) using only telehealth procedures. Nine participants (two females; ages 3 to 11 years) required an in-person evaluation. Responses from psychologist and parent acceptability surveys indicated the model was acceptable for most clients. Psychologist ratings suggested that telehealth modalities used in the current study may be less acceptable for evaluating school-aged children with subtle presentations compared to children in the early developmental period, adolescents, and adults. Parents of females reported higher acceptability than parents of males. Findings contribute to the small but growing literature on feasibility and acceptability of telehealth evaluations for ASD and have implications for improving access to care during and after the COVID-19 pandemic. LAY SUMMARY: This study described telehealth methods for evaluating children, adolescents, and adults for autism spectrum disorder. Telehealth methods were generally acceptable to psychologists conducting the evaluations and parents of diagnostic clients. Psychologists reported the methods to be less acceptable for school-aged children and parents of males found the methods less acceptable than parents of females. The telehealth methods described may help to increase access to diagnostic professionals and reduce wait times for evaluations during and after the COVID-19 pandemic.

This case report details the findings of metastatic colon cancer in an older male patient who initially presented with signs and symptoms of acute appendicitis. The patient underwent routine CT (Computed Tomography) imaging for diagnostic evaluation of appendicitis. Subsequently, the patient was found to have findings consistent with acute appendicitis secondary to obstruction from a cecal mass with evidence of hepatic and pulmonary metastases. This case report demonstrates the radiological findings of acute appendicitis secondary to metastatic colorectal disease and highlights the importance of considering underlying malignancy in cases of appendicitis occurring in older individuals.

Idiopathic pulmonary fibrosis (IPF) is a devastating disease for patients and their loved ones. Since initial efforts to characterize this disease in the 1960s, understanding of IPF has evolved considerably. Such evolution has continually challenged prior diagnostic and treatment paradigms, ushering in an era of higher confidence diagnoses with less invasive procedures and more effective treatments. This review details how research and clinical experience over the past half century have led to a rethinking of IPF. Here, the evolution in understanding of IPF pathogenesis, diagnostic evaluation and treatment approach is discussed.

During pregnancy and lactation, the breast undergoes unique changes that manifest as varied clinical and imaging findings. Understanding the expected physiologic changes of the breast as well as recognizing the best imaging modalities for a given clinical scenario can help the radiologist identify the abnormalities arising during this time. Discussion with the patient about the safety of breast imaging can reassure patients and improve management. This article reviews the physiologic changes of the breast during pregnancy and lactation; the safety and utility of various imaging modalities; upto-date consensus on screening guidelines; recommendations for diagnostic evaluation of breast pain, palpable abnormalities, and nipple discharge; and recommendations regarding advanced modalities such as breast MRI. In addition, the commonly encountered benign and malignant entities affecting these patients are discussed.

Purpose of review This article provides a systematic diagnostic approach to the patient with headache. Recent findings The vast majority of patients presenting with headache in clinical practice have a primary headache disorder. The most common primary headache disorder in clinical practice is overwhelmingly migraine. Unfortunately, a substantial proportion of patients with migraine do not receive an accurate diagnosis. In addition, the clinical features of migraine overlap with secondary causes of headache, making a careful history and deliberative evaluation for warning symptoms or signs of a secondary headache disorder of paramount importance. Summary The approach to the patient with headache requires knowledge of the diagnostic criteria for primary headache disorders, recognition of the importance of a systematic evaluation for red flags associated with secondary headache disorders, and awareness of the pearls and pitfalls encountered in the diagnostic evaluation of a patient with headache.

Research indicates that children with autism spectrum disorder (ASD) frequently exhibit dysregulation, which refers to poorly coordinated affective, behavioral, and cognitive responses to a given situation. We examined the characteristics of dysregulation in children presenting to a multidisciplinary ASD clinic for an ASD diagnostic evaluation. Sixty percent of children presenting for an ASD evaluation exhibited dysregulation. Dysregulation prevalence was higher in children without ASD versus with ASD (69% versus 56%). Severe dysregulation was higher in children without ASD (29% versus 16%). Both groups with severe dysregulation were equally likely to be taking psychiatric medications, however, children with ASD were less likely to be receiving therapy. These findings highlight the importance of implementing dysregulation screening and treatment protocols in ASD centers.

Failure to diagnose transient ischemic attack (TIA) or stroke in a timely fashion is associated with significant patient morbidity and mortality. In the outpatient or clinic setting, we suspect that patients with minor, transient, and atypical manifestations of cerebrovascular disease are most prone to missed or delayed diagnosis. We therefore detail common stroke chameleon symptoms as well as atypical stroke presentations, broadly review new developments in the study of diagnostic error in the outpatient setting, suggest practical clinical strategies for diagnostic error reduction, and emphasize the need for rapid consultation of stroke specialists when appropriate. We also address the role of psychiatric disease and vascular risk factors in the diagnostic evaluation and treatment of suspected stroke/TIA patients. We advocate incorporating diagnostic time-outs into clinical practice to assure that the diagnosis of TIA or stroke is considered in all relevant patient encounters after a detailed history and examination are conducted in the outpatient setting.

The purpose of the study was to study the pulmonary vessels in patients with pulmonary hypertension using Computed Tomography scan (CT) This is a prospective ,analytical study. this study was conducted at Khartoum Hospital (Sudan); in the period between November 2020 - January 2021 a sample of (100) patients with clinically diagnosed as pulmonary hypertension was enrolled, their mean ages were (47.92 ± 19.03) years, the sample included both genders, (42) patients were females while (58) were males and their ages were ranged from (3 - 80) years old. (CTPA) scans were acquired, all patients were examined by using multislice (CT) scanner, the data collected by special designed sheet from findings and analyzed statistically by using an (SPSS) Statistics software package. The sample was directed to study the relationship of pulmonary hypertension with the presence of pulmonary vessels measurements; the patient's age and gender correlation with the pulmonary hypertension were investigated. The results find that the right and left main pulmonary arteries diameters changes were found to be significantly related to the presence of pulmonary hypertension, while there was no significant difference in the main pulmonary artery diameters measurements. The study concluded that CT for pulmonary artery plays an important role in the diagnostic evaluation of patients with pulmonary hypertension this due to it is easily accessible and excellent non-invasive method for the visualization and measurement of pulmonary artery and to know the possible cause of pulmonary hypertension.

AIM: This study is a preliminary study to analyze the etiology and pathophysiology of exposure to wood dust and diisocyanates in the wood processing industry in Jepara, Central Java, Indonesia. This study also provides a diagnostic evaluation of occupational asthma (OA) for ongoing exposure. METHODS: The research method was carried out with a systematic review of various previous findings and with a preliminary study of workers in the processing industry in Jepara, Indonesia. RESULTS: The results show that from a sample of 32 respondents who have been carried out in a wood processing factory in Jepara, it shows that the suspect OA in sanding workers by hand is 75%, with the distribution of signs and symptoms: Chest tightness and pain (90%); cough (53%); shortness of breath (50%); and wheezing (2%). From the signs and symptoms felt, workers felt a continuous increase (progressivity) of OA by 75%. CONCLUSION: Theoretically, this preliminary study is useful to provide information about exposure to wood dust and diisocyanates as a risk factor for OA, especially among workers in the wood industry.

Depression and anxiety are common conditions in adults with intellectual disabilities (ID) and often coexist with behaviour problems. We examined whether behaviour problems can be used to screen for depression and anxiety in ID. Clinical prediction models (CPM) generated from independent databases supported the utility of the depression screen, especially in severe/profound ID. CPM did not support the utility of the anxiety screen at any ID level. Given the paucity of screening tools to improve ascertainment of mental ill-health in ID, the short depression screen would be clinically useful in identifying those who need to undergo a full diagnostic evaluation.

Background: Glaucoma is characterized by chronic progressive optic neuropathy with corresponding visual field changes, with or without raised intraocular pressure (IOP). When diagnosing glaucoma or monitoring its progression, the examiner has to rely on the appearance of the optic disc, characteristic retinal nerve fiber layer defects, and corresponding visual field defects. However, similar changes and symptoms may be observed in several other disorders of the optic nerve and retina that may mimic glaucoma, often leading to misdiagnosis. Methods and result: The consequences of misdiagnosis not only result in improper treatment that may impact vision but also would negatively affect the overall health, psychological well-being of the patient, and may have considerable economic implications.Conclusion: The current review describes various conditions that mimic glaucoma and the features that help differentiate these conditions from glaucoma.

The terms ‘idiopathic short stature’ (ISS) and ‘small for gestational age’ (SGA) were first used in the 1970s and 1980s. ISS described non-syndromic short children with undefined aetiology who did not have growth hormone (GH) deficiency, chromosomal defects, chronic illness, dysmorphic features or low birth weight. Despite originating in the pre-molecular era, ISS is still used as a diagnostic label today. The term ‘SGA’ was adopted by paediatric endocrinologists to describe children born with low birth weight and/or length, some of whom may experience lack of catch-up growth and present with short stature. GH treatment was approved by the FDA for short children born SGA in 2001, and by the EMA in 2003, and for the treatment of ISS in the US, but not Europe, in 2003. These approvals strengthened the terms ‘SGA’ and ‘ISS’ as clinical entities. While clinical and hormonal diagnostic techniques remain important, it is the emergence of genetic investigations that have led to numerous molecular discoveries in both ISS and SGA subjects. The primary message of this article is that the labels ISS and SGA are not definitive diagnoses. We propose that the three disciplines of clinical evaluation, hormonal investigation and genetic sequencing should have equal status in the hierarchy of short stature assessments and should complement each other to identify the true pathogenesis in poorly growing patients.

Eosinophilic gastroenteritis (EGE) is an uncommon disease characterized by eosinophilic infiltration of the gastrointestinal tract in the absence of secondary causes and presents with a variety of gastrointestinal manifestations. Important diagnostic evidence for EGE can be provided by endoscopy; however, the specific small-bowel capsule endoscopic (SBCE) findings remain unknown. We herein report the SBCE findings of three cases of EGE as well as those of the previous cases. The most common findings in patients with EGE were multiple erythema and erosions with surrounding redness on SBCE; these findings should be considered for the diagnostic evaluation for EGE.

Purpose of review Cauda equina dysfunction (often referred to as cauda equina syndrome) is caused by a diverse group of disorders that affect the lumbosacral nerve roots. It is important to recognize dysfunction of the cauda equina quickly to minimize diagnostic delay and lasting neurologic symptoms. This article describes cauda equina anatomy and the clinical features, differential diagnosis, and management of cauda equina disorders. Recent findings The diagnosis of disorders of the cauda equina continues to be a challenge. If a compressive etiology is seen, urgent neurosurgical intervention is recommended. However, many people with clinical features of cauda equina dysfunction will have negative diagnostic studies. If the MRI is negative, it is important to understand the diagnostic evaluation and differential diagnosis so that less common etiologies are not missed. Summary Cauda equina dysfunction most often occurs due to lumbosacral disk herniation. Nondiskogenic causes include vascular, infectious, inflammatory, traumatic, and neoplastic etiologies. Urgent evaluation and surgical intervention are recommended in most cases of compressive cauda equina syndrome. Other types of treatment may also be indicated depending on the etiology.

Newborn screening efforts focusing on the quantification of T cell receptor excision circles (TRECs), as a biomarker for abnormal thymic production of T cells, have allowed for the identification and definitive treatment of severe combined immunodeficiency (SCID) in asymptomatic neonates. With the adoption of TREC quantification in Guthrie cards across the USA and abroad, typical, and atypical SCID constitutes only ~ 10% of cases identified with abnormal TRECs associated with T cell lymphopenia. Several other non-SCID-related conditions may be identified by newborn screening in a term infant. Thus, it is important for physicians to recognize that other factors, such as prematurity, are often associated with low TRECs initially, but often improve with age. This paper focuses on a challenge that immunologists face: the diagnostic evaluation and management of cases in which abnormal TRECs are associated with variants of T cell lymphopenia in the absence of a genetically defined form of typical or atypical SCID. Various syndromes associated with T cell impairment, secondary forms of T cell lymphopenia, and idiopathic T cell lymphopenia are identified using this screening approach. Yet there is no consensus or guidelines to assist in the evaluation and management of these newborns, despite representing 90% of the patients identified, resulting in significant work for the clinical teams until a diagnosis is made. Using a case-based approach, we review pearls relevant to the evaluation of these newborns, as well as the management dilemmas for the families and team related to the resolution of genetic ambiguities.

Parents of children with autism spectrum disorder (ASD) show increased levels of parenting stress, but only one study has examined this association before a diagnostic evaluation. We conducted a cross-sectional study of parenting stress in 317 low SES parents with children at-risk for ASD before a diagnostic evaluation. Multiple regression modeling evaluated the associations between parenting stress and parent and child factors. Parenting stress was negatively associated with social support and positively associated with active avoidance coping and parental worry. However, parenting stress was not associated with the child’s ASD symptom severity or adaptive functioning, except for self-direction. Findings suggest parenting stress among parents of children at risk of ASD should be assessed prior to diagnosis.

Objective: This paper explores the value of CT three-dimensional reconstruction image technology in the diagnosis and treatment of anterior cruciate ligament injury of the knee joint. Methods: The paper selected March 2017–April 2018 to treat and diagnose the reconstructed images in our hospital and imported them into MIMICSl0.01 for 3D reconstruction of the knee joint, and segmented and isolated the anterior cruciate ligament model. The lengths of the anterior and posterior outer edges of the anterior cruciate ligament separated at 0° and 90° were measured respectively: the angles between the anterior and posterior cruciate ligament at 90° to the horizontal plane. Comparison and analysis of CT 3D reconstruction measurement data with recognized autopsy data and arthroscopy measurement data. Results: The positive rate of "anterior cruciate ligament injury" diagnosed by three-dimensional CT was 93.33%. The CT 3D reconstruction measurement data is not significantly different from the accepted anterior cruciate ligament cadaver measurement data. There is no statistically significant difference between the CT 3D measurement data and arthroscopic measurement data. Conclusion: Three-dimensional CT reconstruction plays a significant role in the early diagnosis of anterior cruciate ligament injury of the knee joint. CT three-dimensional reconstruction can be used as an anatomical method in the study of normal human anatomy. CT three-dimensional reconstruction of the anterior cruciate ligament of the knee joint plays an important role in guiding anterior cruciate ligament reconstruction under knee arthroscopy.

Objective: CA125 is a commonly used tumor marker in ovarian cancer patients for both diagnostic evaluation and follow-up period. In this study, we investigated the clinical importance of postoperative serum CA125 level normalization in ovarian cancer patients with high preoperative levels in terms of recurrence risk and disease free survival.Materials and Methods: We retrospectively analyzed operated ovarian cancer patients who were followed up in medical oncology clinic of Izmir Katip Celebi University Ataturk Training and Research Hospital between years 2005 – 2013. Two different analyses were done according to different CA125 cut-off levels; 35 IU/ml and 65 IU/ml.Results: There are 132 and 119 patients who had basal CA125 levels above normal (cut-off levels were >35 IU/ml and 65 IU/ml respectively). The number of patients who had normalized CA125 levels after surgery was 54 and 58, and who had still high levels was 78 and 61, respectively. For both CA125 cut-off values, there were statistically significant differences in disease free survival (32 month vs. 18 month p:0.015 - 32 month vs. 17 months p:0.001) and overall survival (108 month vs. 36 month p:0.015 - 89 month vs. 33 month p:0.000) between patients with normalized and not normalized postoperative CA125 levels.Conclusion: In operated ovarian cancer patients, who had high preoperative CA125 levels, the decrease in this value postoperatively must be evaluated and normalization of this tumor marker may give us an idea about the recurrence of the disease., Amaç: CA125, over kanseri hastalarında gerek tanı aşamasında gerekse tedavi sonrası takiplerde tümör belirteci olarak kullanılmaktadır. Biz de çalışmamızda preoperatif serum CA125 değeri yüksek olan over kanseri hastalarında operasyondan sonraki değerlerinin normale dönüp dönmemesinin nüks riskini belirleme ve nükse kadar geçen süre açısından önemini araştırdık. Yöntem: Çalışmamızda 2005 – 2013 yılları arasında İzmir Katip Çelebi Üniversitesi Atatürk Eğitim ve Araştırma Hastanesi Tıbbi Onkoloji Kliniğinde opere over kanseri tanısıyla takip ve tedavi edilen hastalar retrospektif olarak taranmıştır. CA125 sınır değeri olarak hem 35 IU/ml hem de 65 IU/ml kullanılarak iki farklı analiz yapılmıştır. Bulgular: Çalışmamıza bazal CA125 değeri yüksek olan (sınır değer >35 IU/ml ve 65 IU/ml alındığında) sırasıyla 132 ve 119 hasta alınmıştır. Preoperatif CA125 değeri yüksek olup postoperatif normale gelen hastaların sayısı sırasıyla 54 ve 58 iken bu değeri normalleşmeyen hastaların sayısı 78 ve 61’dir. Her iki CA125 sınır değeri için, postoperatif CA125 değeri normalleşenlerle normalleşmeyen hastalarda hem nükse kadar geçen süre (32 aya karşı 18 ay p:0,015 - 32 aya karşı 17 ay p:0,001) hem de tüm sağkalım açısından (108 aya karşı 36 ay p:0,015 - 89 aya karşı 33 ay p:0,000) istatistiksel anlamlı fark saptanmıştır.Sonuç: Opere over kanseri hastalarından bazal CA125 değeri yüksek saptanan hastalarda ameliyat sonrasındaki düşüşü değerlendirip, bu değerin normal sınırlara düşüp düşmemesine göre nüks süreci hakkında fikir sahibi olunabilinir.

Iatrogenic tracheal injuries are an uncommon but serious complication of endotracheal tube intubation. We present two cases that illustrate iatrogenic tracheal injuries presenting hours after the time of their injury. This report addresses the critical diagnostic evaluation and management of iatrogenic tracheal injuries resulting from endotracheal intubation.

Context: The study involves the evaluation of two polymerase chain reaction (PCR) techniques one of which has been endorsed by the WHO for their diagnostic capabilities. Aims: The aim of this study is to evaluate the diagnostic accuracy of GeneXpert mycobacterium tuberculosis/Rifampin (MTB/RIF) and mycoreal PCR techniques in the diagnosis of endometrial tuberculosis (TB) considering culture as the gold standard. Settings and Design: A retrospective study conducted at Gunasheela surgical and maternity hospital. Patients who attended the outpatient department between January 2013 and August 2016, satisfying the eligibility criteria, were included in the study. Methodology: Women included in the study underwent endometrial pipelle sampling premenstrually after ruling out pregnancy in that cycle. Endometrial samples were tested for TB by Mycoreal PCR, Gene Xpert and BACTEC culture. Statistical Analysis Used: Statistical analysis was done using the R software version 3.6.1. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of test were calculated. Results: A total of 3229 samples were analyzed, of which 1754 were evaluated by Mycoreal TB PCR and 1475 were evaluated by Gene Xpert MTB/RIF assay. The sensitivity of mycoreal TB PCR technique was 34.78%, specificity was 99.08%, PPV was 33.33%, NPV was 99.13%, and accuracy was 98.23%. The sensitivity of GeneXpert MTB/RIF technique was 6.90%, specificity was 99.79%, PPV was 40.00%, NPV was 98.16%, and accuracy was 97.97%. Conclusions: MYCOREAL seemed to be more sensitive than Gene Xpert (MTB/RIF) considering culture as the gold standard in the diagnosis of endometrial TB.

Objective Though fluctuations in vestibular function represent a common finding in Meniere's disease, we describe how benign paroxysmal positional vertigo (BPPV) may result in fluctuations of vestibulo-ocular reflex for the involved canal depending on the disposition of otoliths. Patient A 54-year-old woman suffering from refractory posterior canal (PC)-BPPV resulting in fluctuating PC function. Interventions Diagnostic evaluation and rehabilitative treatment for BPPV involving the affected PC. Main outcome measures Video-Frenzel and video-head impulse test (vHIT) findings before and after canalith repositioning procedures for PC-BPPV. Results BPPV involving the nonampullary arm of right PC was diagnosed based on presenting positional downbeat nystagmus and selective right PC hypofunction at the vHIT. During physical treatment, nystagmus first became positional paroxysmal upbeat likely due to a shift of debris into the ampullary arm of the canal, then turned to spontaneous downbeat nystagmus consistently with a plug effect exerted by particles entrapped within the nonampullary arm of PC and finally receded proving an otoliths fall within the utriculus. Simultaneously, vHIT documented fluctuations for right PC vestibulo-ocular reflex gain as it first increased to normal values, then severely declined and finally normalized, respectively. High-resolution computed tomography scan detected ipsilateral superior canal dehiscence. Conclusions In accordance with recently reported vHIT findings in different types of BPPV, fluctuation of PC function could be likely explained by the effect of particles on cupular dynamic responses depending on the portion of the canal gradually involved. Superior canal dehiscence may have played a role facilitating otoliths mobilization by reducing labyrinthine impedance.

AIM The aim of the study was to evaluate the presence of covert hepatic encephalopathy (cHE) and its characteristics according to the presence of spontaneous portosystemic shunts (SPSS) and their influence on the development of overt hepatic encephalopathy. METHODS Secondary analysis of a multicentre study, which evaluated the association between SPSS and complications of cirrhosis. The present study population includes those patients who also underwent cHE diagnostic evaluation. Presence of SPSS was evaluated by cross-sectional imaging and quantified by total SPSS-area. Logistic and Cox-regression competing risk analyses were performed. RESULTS About 65 patients were included of age 58 (IQR 50-66), MELD 15 (IQR 10-20), with alcoholic liver disease 63%. Thirty-two patients (49%) had cHE, had higher MELD [16 (IQR 12-24) vs 13 (IQR 9-17), P = .027], a greater proportion of SPSS [n = 18 (56%) vs n = 8 (24%); P = .008] and a higher total cross-sectional SPSS-area [28.3 (0-94.2) vs 0 (0-14.1); P = .005]. On multivariate analysis MELD [OR 1.11 (95% CI 1.01-1.21)] and presence of SPSS [OR 3.95 (95% CI 1.22-12.80)] were independently associated to cHE at baseline. During follow-up cHE was an independent predictor of oHE [cHE: HR 6.93 (95% CI 2.64-18.20). The effect of cHE on the development of oHE was greater in patients with SPSS [only cHE: HR 5.66 (95% CI 1.82-17.62), cHE and SPSS: HR 8.63 (95% CI 3.15-23.65)]. CONCLUSIONS cHE is independently associated to the presence of SPSS (and total cross-sectional SPSS-area) and MELD. Furthermore, the presence of SPSS seems to increase the risk of cHE of developing of overt hepatic encephalopathy.

The posterior cruciate ligament (PCL) represents an intra-articular structure composed of two distinct bundles. Considering the anterior and posterior meniscofemoral ligaments, a total of four ligamentous fibre bundles of the posterior knee complex act synergistically to restrain posterior and rotatory tibial loads. Injury mechanisms associated with high-energy trauma and accompanying injury patterns may complicate the diagnostic evaluation and accuracy. Therefore, a thorough and systematic diagnostic workup is necessary to assess the severity of the PCL injury and to initiate an appropriate treatment approach. Since structural damage to the PCL occurs in more than one third of trauma patients experiencing acute knee injury with hemarthrosis, background knowledge for management of PCL injuries is important. In Part 1 of the evidence-based update on management of primary and recurrent PCL injuries, the anatomical, biomechanical, and diagnostic principles are presented. This paper aims to convey the anatomical and biomechanical knowledge needed for accurate diagnosis to facilitate subsequent decision-making in the treatment of PCL injuries.Level of evidence V.

Tuberculosis is the leading cause of death globally that is due to a single pathogen, and up to a fifth of patients with tuberculosis in high-incidence countries are children younger than 16 years. Unfortunately, the diagnosis of childhood tuberculosis is challenging because the disease is often paucibacillary and it is difficult to obtain suitable specimens, causing poor sensitivity of currently available pathogen-based tests. Chest radiography is important for diagnostic evaluations because it detects abnormalities consistent with childhood tuberculosis, but several limitations exist in the interpretation of such results. Therefore, other imaging methods need to be systematically evaluated in children with tuberculosis, although current data suggest that when available, cross-sectional imaging, such as CT, should be considered in the diagnostic evaluation for tuberculosis in a symptomatic child. Additionally, much of the understanding of childhood tuberculosis stems from clinical specimens that might not accurately represent the lesional biology at infection sites. By providing non-invasive measures of lesional biology, advanced imaging tools could enhance the understanding of basic biology and improve on the poor sensitivity of current pathogen detection systems. Finally, there are key knowledge gaps regarding the use of imaging tools for childhood tuberculosis that we outlined in this Personal View, in conjunction with a proposed roadmap for future research.

Echography (ECHO) is a first-line technology for diagnostic evaluation and prognostic stratification of patients with heart failure (HF). Recognizing specific diseases or conditions amenable to specific treatment is a crucial step in the work-up of patients with HF. Left ventricular ejection fraction (EF) measurement, despite its pathophysiological and methodological limitations, is the primary parameter for the HF classification, incorporating forms with reduced, moderately reduced, and preserved ejection fraction. The cardiac filling parameters could characterize the haemodynamic profile of the various forms of HF and guide different clinical therapeutic strategies. Besides the conventional parameters, widely validated by the clinical practice (old parameters), ECHO provides new information on cardiac function (deformation index), which prospectively could refine our phenotypic classification, beyond EF, thus opening new prospects in the pre-clinical identification, and in the selection of the appropriate treatment for HF patients Stemming from the recent technologic improvements, it is possible to analyse conventional parameters with innovative and automatic approaches, which are quickly available, and able to open new perspectives in the treatment of patients with HF.

BACKGROUND: Popliteal artery aneurysms (PAA) are the most common peripheral artery aneurysms. Most common cause is arteriosclerosis. Acute thromboembolic limb ischemia and rupture of the PAA depict severe complications. Diagnostic tools for identifying PAAs are (Doppler) ultrasound, CT/MR angiography and DSA. PURPOSE: The aim of the present retrospective single-center study is to assess the application and safety of CEUS for assessing untreated and treated PAAs. MATERIALS AND METHODS: 13 patients were included in this study on whom CEUS was performed between 2007–2016. CEUS examinations were performed and interpreted by an experienced single radiologist (EFSUMB Level 3). RESULTS: CEUS allowed for the detection of PAAs in all cases. CEUS allowed for detection of partial thrombosis of PAA in 7/8 of untreated patients, proper exclusion of PAA upon femoro-popliteal bypass in 3 patients, incomplete exclusion of PAA upon femoro-popliteal bypass in 1 patient and ruling out of in-stent stenosis in 1 patient. CONCLUSION: CEUS is a useful and safe tool for in real-time evaluation of PAAs in the pre-/post-treatment status. In addition to conventional (Doppler) ultrasound and as an alternative tool to more elaborate imaging modalities, CEUS might be integrated in the future diagnostic work-up and follow-up of PAA patients.

Peripheral neuropathies can be classified as typical or atypical. Patients with atypical neuropathy have one or more of the following features: acute/subacute onset, non-length dependence, motor predominance, or asymmetry. This classification is important because it informs the appropriate diagnostic evaluation of this highly prevalent condition. The evaluation of a typical peripheral neuropathy, also known as distal symmetric polyneuropathy, requires a thorough history, neurologic examination, and focused laboratory testing. Electrodiagnostic testing and MRI account for the majority of costs but rarely lead to changes in diagnosis or management. These costs are increasingly being passed on to patients, especially those with high-deductible health plans. In contrast, patients with atypical neuropathy require more extensive testing, including electrodiagnostic tests. These tests are much more likely to lead to the use of disease-modifying therapies in these patients compared to in those with typical peripheral neuropathy. This article describes two cases to illustrate the appropriate diagnostic workup of those with typical or atypical neuropathy.

This brief report focuses on the evaluation and diagnosis of clinically localized renal masses in children and adults with Von Hippel–Lindau (VHL) disease. Counseling considerations pertinent to the urologists, medical oncologists, and multidisciplinary teams involved in the care of these patients are addressed. As practice patterns regarding the evaluation and management of VHL tumors can vary considerably, this report aims to provide guidance on some of the controversies associated with the diagnostic evaluation and initial management of localized renal masses in VHL patients.

The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge of the broad metabolic impact of many of the molecular defects underlying RHA. In this study we explored the potential of untargeted metabolomics to diagnose a relatively common type of RHA: pyruvate kinase deficiency (PKD). In total, 1,903 unique metabolite features were identified in dried blood spot samples from 16 PKD patients and 32 healthy controls. A metabolic fingerprint was identified using a machine learning algorithm, and subsequently a binary classification model was designed. The model showed high performance characteristics (AUC 0.990, 95% CI: 0.981-0.999) and an accurate class assignment was achieved for all newly added control (n=13) and patient samples, (n=6) with the exception of one patient (accuracy 94%). Important metabolites in the metabolic fingerprint included glycolytic intermediates, polyamines and several acyl carnitines. In general, the application of untargeted metabolomics in dried blood spots is a novel functional tool that holds promise for the diagnostic stratification and studies on the disease pathophysiology in RHA.

Left ventricular outflow tract (LVOT) obstruction is a component of many forms of congenital heart disease, including hypertrophic cardiomyopathy, membranous subaortic stenosis, tunnel subaortic stenosis, and outflow tract obstruction related to atrioventricular septal defects. We have gained a particularly extensive experience with the diagnosis and treatment of hypertrophic cardiomyopathy, having performed septal myectomy in over 3,800 patients. In the setting of this review of LVOT obstruction, we use hypertrophic cardiomyopathy as a template by which other pathologies causing LVOT obstruction can be understood. We review important surgical issues in patient selection, diagnostic evaluation, interpretation of imaging, and operative management. To this end, the review focuses on obstructive hypertrophic cardiomyopathy and then broadens to discuss other pathologies causing LVOT obstruction, with important similarities and differences in their management. These other pathologies share some similar presentations and operative techniques, and at times can be confused with hypertrophic cardiomyopathy, but also have important distinctions of which the surgeon should be aware.

BackgroundIndividuals diagnosed with borderline personality disorder (BPD) often describe their lives as stressful and unpredictable. However, it is unclear whether the adversity faced by those with BPD is a product of stress reactivity or stress generation. Here, we examined the dynamic, prospective associations between BPD and stressful life events over 3 years. Given the heterogeneity present in BPD, we sought to understand which empirically derived dimensions of this heterogeneous disorder explain stress reactivity v. stress generation.MethodsParticipants included 355 individuals diagnosed with BPD and followed longitudinally at three annual assessments. Auto-regressive cross-lagged panel models were used to examine prospective associations between stressful life events and three latent dimensions implicated in BPD: negative affect, disinhibition, and antagonism.ResultsAntagonism and disinhibition, but not negative affect, prospectively predicted dependent stressful life events (events the individual may have some role in). Evidence for decompensation under stress was more tenuous, with independent stressful life events (those presumably outside the individual's control) predicting increases in negative affect.ConclusionsOur longitudinal study of a well-characterized clinical sample found more evidence for stress generation than for stress-induced decompensation in BPD. Stress generation in BPD is driven by externalizing dimensions: antagonism and disinhibition. These results highlight the utility of empirically derived dimensions for parsing heterogeneity present in BPD, leading to improvements in diagnostic evaluation, clinical prediction, and individualized approaches to treatment planning.

Postinflammatory hypopigmentation is an acquired form of hypopigmentation that occurs secondary to an exogenous or endogenous insult to the skin. It can occur in all skin phototypes but is more visually apparent in skin of color. Due in part to greater attention given to its counterpart, postinflammatory hyperpigmentation, there is a dearth of literature describing this entity and treatment options remain limited. This review provides a comprehensive update on the pathogenesis, diagnostic evaluation and treatment of postinflammatory hypopigmentation, with a focus on newly reported treatment modalities.

The authors compared baseline characteristics and reporting of psychosocial measures among veterans with seizures who were evaluated in-clinic or remotely via computer video telehealth (CVT). It was hypothesized that the CVT group would report less trauma history, drug use, and comorbid symptoms compared with veterans seen in-clinic.A cross-sectional design was used to compare 72 veterans diagnosed with psychogenic nonepileptic seizures (PNES) or concurrent mixed epilepsy and PNES who were consecutively evaluated by a single clinician at the Providence Veterans Affairs Medical Center (PVAMC) Neuropsychiatric Clinic. In-clinic evaluations of veterans were performed at the PVAMC Neuropsychiatric Clinic (N=16), and remote evaluations of veterans referred to the VA National TeleMental Health Center were performed via CVT (N=56). All 72 patients were given comprehensive neuropsychiatric evaluations by direct interview, medical examination, and medical record review. Veterans' reporting of trauma and abuse history, drug use, and psychiatric comorbidities was assessed, along with neurologic and psychiatric variables.No significant differences were found between veterans evaluated in-clinic or remotely with regard to baseline characteristics and reporting of potentially sensitive information, including trauma and abuse history, substance use, and comorbid symptoms.Veterans with PNES evaluated via telehealth did not appear to withhold sensitive or personal information compared with those evaluated in-clinic, suggesting that CVT may be a comparable alternative for conducting evaluations. Baseline evaluations are used to determine treatment suitability, and telehealth allows clinicians to gain access to important information that may improve or inform care.

We describe the case of a 42-year-old female with recurrent left ventricular (LV) thrombus and multiple embolic events despite having normal LV systolic function. The clinical presentation, associated conditions, diagnostic evaluation and treatment of patients with LV thrombus in the setting of normal LV systolic function are discussed. (Level of Difficulty: Beginner.), Graphical abstract, We describe the case of a 42-year-old female with recurrent left ventricular (LV) thrombus and multiple embolic events despite having normal…

Non-Hodgkin lymphoma encompasses a diverse group of B-cell and T-cell neoplasms. Current classification is based on clinical information, histologic assessment, immunophenotypic characteristics, and molecular alterations. A wide range of genetic alterations, including large chromosomal structural rearrangements, aneuploidies, point mutations, and copy number alterations, have been reported across all types of lymphomas. Many of these are now incorporated into the World Health Organization-defined criteria for the diagnostic evaluation of patients with lymphoid proliferations and, therefore, their accurate identification is paramount for diagnosis, subclassification, and selection of treatment. In addition to their value in the diagnostic setting, many alterations that are not routinely evaluated in standard clinical practice may still define specific disease entities as they have important implications in risk stratification, as well as roles in emerging alternate therapies and disease monitoring. Because of the complexity and range of alterations, their accurate and sensitive assessment requires a careful selection of technology. Here, we discuss the most commonly used molecular techniques in current clinical practice and highlight some of the benefits and pitfalls based on the type of alteration.

Ya Sun,1,2,* Shuo Yang,3,* Erpeng Qi,1 Fangyi Liu,1 Fubo Zhou,1 Yuhan Lu,1 Ping Liang,1 Huiyi Ye,4 Xiaoling Yu1 1Department of Interventional Ultrasound, Chinese PLA General Hospital, Beijing 100853, People’s Republic of China; 2Department of Ultrasound, Aerospace Central Hospital, Beijing 100049, People’s Republic of China; 3Chinese PLA Medical School, Beijing, 100853, People’s Republic of China; 4Radiology Department, Chinese PLA General Hospital, Beijing 100853, People’s Republic of China*These authors contributed equally to this workCorrespondence: Xiaoling YuDepartment of Interventional Ultrasound, Chinese PLA General Hospital, 28 Fuxing Road, Beijing 100853, People’s Republic of ChinaEmail dyuxl301@aliyun.comPurpose: The purpose of our study was to evaluate the role of contrast-enhanced ultrasound (CEUS) with magnetic resonance imaging (MRI) and computed tomography (CT) in the pathological diagnosis of pancreatic cystic neoplasms (PCNs).Methods: A total of 90 patients (66 women, 24 men) aged 18– 71 years were studied prospectively. CEUS was performed in all patients, whereas MRI was performed in 85 patients and CT in 69 patients. We analyzed the sensitivity and accuracy of these three imaging modalities to diagnose the PCNs. Neoplasm size, location, shape, intralesional mural nodules, septa and duct dilatation were also assessed by different radiologists.Results: There were no significant differences in sensitivity for discriminating PCNs from pancreatic cystic lesions between CEUS and MRI (p=0.614) or between CEUS and CT (p=0.479). The diagnostic accuracy of CEUS for classifying PCNs was 64.4% (58/90), which was higher than that of CT (53.6%, 37/69, P=0.017), and lower than that of MRI (70.6%, 60/85, p=0.791). Regarding tumor size for lesions larger than 3 cm, CEUS was superior to CT in differentiating the specific type of PCN (p=0.041), and CEUS had the same value as MRI (p=0.774). Furthermore, CEUS is valuable for precisely characterizing internal structures, for instance, septa (p=0.003, compared with CT; p=0.443, compared with MRI) and nodules (p= 0.018, compared with CT; p=0.033, compared with MRI). The number of septa (p=0.033) and cyst morphology (p=0.016) were meaningful indicators in differentiating serous and mucinous adenoma. There was no significant difference in evaluating size and detecting duct dilatation among the three imaging methods.Conclusion: CEUS compares favorably with MRI in displaying the inner structure of PCNs and offers advantages over CT. CEUS can contribute in an important way to the diagnosis of pancreatic cystic neoplasms.Keywords: contrast-enhanced ultrasound, computed tomography, magnetic resonance imaging, pancreatic cystic neoplasms, diagnostic evaluation

Postpartum depression (PPD) is higher among NICU mothers compared to mothers without infants in the NICU. Routine screening improves early PPD identification and treatment for mothers. Key national women and infant organizations endorse facility-based policies that address PPD screening. In addition to PPD screening, the key national organizations recommend facilities providing care to women and infants develop a method of referral for maternal PPD evaluation, treatment, and follow-up. Due to the timing, onset, and maternal predisposition to PPD, the NICU is a prime setting for PPD screening. Despite recommendations, PPD screening is not routine in the NICU. This article describes the development and assessment of a PPD screening program implemented in the NICU. Data analysis of 30 NICU mothers evaluated the risk of PPD based on screening tool scores, maternal diagnostic evaluation compliance, and documentation of maternal follow-up with designated NICU staff.

Sex differentiation disorders (SDD) is the discrepancy between the genetic, gonadal and phenotypic sex of the child. Treatment of children with this pathology is a multidisciplinary problem relating to the different aspects of pediatric urology-andrology. The pediatric urologist-andrologist, who, in addition to the pediatric endocrinologist and genetics, examines newborns with sex differentiation disorders in perinatal centers and outpatient department, should be informed about proper diagnostic evaluation of children with such pathology. The presence of ambiguous genitalia requires such measures, as an exclusion of life-threatening conditions associated with virializing congenital adrenal hyperplasia in girls; determination of the chromosomal gender as a basis when choosing a legal gender for a child, the study of the hormonal status at an early age of 3-6 months to determine a prognosis of the gonadal hormonal function, an identification of exact variant of the SDD. Following the diagnostic algorithm at an early age with a proper sequence, patient referring determines the success of diagnostic and therapeutic procedures.

The aim of the study was to quantify the value of pre-operative magnetic resonance imaging (MRI) in guiding surgical management of women with endometriosis. Pre-operative discussion of patient management and review of imaging occurred for 136 patients with endometriosis in an MRI-based multidisciplinary conference co-directed by an abdominal radiologist and gynecologic surgeon. A tri-compartmental report template guided the systematic imaging review. Management changes made as a result of the conference were identified via retrospective chart review and classified as major, directly influencing the surgical procedure or approach, or minor, impacting the patient’s medical management, therapies, or diagnostic evaluation. Of the 136 patients discussed in conference, a management change was identified in 18.4% (25 patients). Major changes occurred in 8.1% (11 patients) and minor changes in 13.2% (18 patients). The sum of major and minor management changes exceeded the total, as both major and minor management changes were made for 4 patients. Our findings demonstrate the ability of an MRI-based multidisciplinary conference to result in pre-operative management changes in approximately 1 of 5 pre-operatively reviewed women with endometriosis. Importantly, systematic review of the MRI facilitated management changes beyond that of the dictated report alone, which was available to clinicians prior to the conference. The study reflects the value of multidisciplinary interaction, with radiologists serving more directly as clinical consultants to surgical services, and suggests an opportunity to optimize the role of MRI in endometriosis management with standardized reports emphasizing surgically pertinent findings.

Sudden cardiac arrest (SCA) and sudden cardiac death (SCD) can be attributed to cardiac, respiratory, metabolic, and toxicologic etiologies. Most cases of SCD are caused by coronary artery disease and approximately 40% of cardiac arrests are unexplained(1). Inherited arrythmias and cardiomyopathies are important contributors to SCA and SCD. Identifying an inherited condition after such an event not only has important ramifications for the individual, but also for relatives who may be at-risk for the familial condition. This review will provide an overview of inherited cardiovascular disorders than can predispose to SCA/SCD, review the diagnostic evaluation for an individual and/or family after a SCA/SCD, and discuss the role of genetic testing.