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Seminars in Reproductive Medicine May 2020To summarize and update our current knowledge regarding adenomyosis diagnosis, prevalence, and symptoms. Systematic review of PubMed between January 1972 and April 2020....
To summarize and update our current knowledge regarding adenomyosis diagnosis, prevalence, and symptoms. Systematic review of PubMed between January 1972 and April 2020. Search strategy included: "adenomyosis [MeSH Terms] AND (endometriosis[MeSH Term OR prevalence study [MeSH Terms] OR dysmenorrhea[Text Word] OR prevalence[Text Word] OR young adults [Text Word] OR adolesce* [Text Word] OR symptoms[Text Word] OR imaging diagnosis [Text Word] OR pathology[Text Word]. Articles published in English that addressed adenomyosis and discussed prevalence, diagnosis, and symptoms were included. Included articles described: pathology diagnosis, imaging, biopsy diagnosis, prevalence and age of onset, symptoms, and concomitant endometriosis. Sixteen articles were included in the qualitative analysis. The studies are heterogeneous when diagnosing adenomyosis with differing criteria, protocols, and patient populations. Prevalence estimates range from 20% to 88.8% in symptomatic women (average 30-35%) with most diagnosed between 32-38 years old. The correlation between imaging and pathology continues to evolve. As imaging advances, newer studies report younger symptomatic women are being diagnosed with adenomyosis based on both magnetic resonance imaging (MRI) and/or transvaginal ultrasound (TVUS). High rates of concomitant endometriosis create challenges when discerning the etiology of pelvic pain. Symptoms that are historically attributed to endometriosis may actually be caused by adenomyosis. Adenomyosis remains a challenge to identify, assess and research because of the lack of standardized diagnostic criteria, especially in women who wish to retain their uterus. As noninvasive diagnostics such as imaging and myometrial biopsies continue to improve, younger women with variable symptoms will likely create criteria for diagnosis with adenomyosis. The priority should be to create standardized histopathological and imaging diagnoses to gain deeper understandings of adenomyosis.
Topics: Adenomyosis; Adolescent; Adult; Diagnosis, Differential; Disease Progression; Dysmenorrhea; Dyspareunia; Endometriosis; Female; Humans; Infertility, Female; Magnetic Resonance Imaging; Menorrhagia; Myometrium; Ultrasonography; Young Adult
PubMed: 33352607
DOI: 10.1055/s-0040-1721795 -
Revista de Neurologia Mar 2019Epileptic seizures and epilepsy are part of daily clinical practice in neurology. Yet, the number of false positive diagnoses is surprisingly high. Almost one out of... (Review)
Review
INTRODUCTION
Epileptic seizures and epilepsy are part of daily clinical practice in neurology. Yet, the number of false positive diagnoses is surprisingly high. Almost one out of every five patients treated for epilepsy does not really have this diagnosis, which is a high percentage bearing in mind the social and medical consequences that being diagnosed with epilepsy entails.
AIMS
To summarise the most important diagnostic challenges in epilepsy, to describe possible sources of diagnostic error and to offer advice on how to avoid them.
DEVELOPMENT
Epilepsy is characterised by a tendency to suffer unprovoked epileptic seizures. The greatest obstacle when it comes to diagnosing a case of epilepsy is the fact that epileptic seizures are transient phenomena that occur relatively infrequently and the physician who must carry out the diagnosis will rarely see them. Moreover, there are other clinical events, such as syncopes or non-epileptic seizures, that may be similar to epileptic seizures in appearance and, consequently, can be mistaken for them. Finally, when interpreting the two most important complementary diagnostic techniques in epileptology, the electroencephalogram and magnetic resonance imaging of the brain, the most common errors must be taken into account in order to prevent mistaken diagnoses.
CONCLUSIONS
The diagnosis of epilepsy is a challenge and must be based on a detailed and specific medical record. If there are any reasonable doubts, from the outset, about the diagnosis of epilepsy or if the patient does not respond well to the antiepileptic treatment, we recommend referring the patient to a specialised centre to establish a definitive diagnosis.
Topics: Diagnosis, Differential; Diagnostic Errors; Electroencephalography; Epilepsy; Humans
PubMed: 30855710
DOI: 10.33588/rn.6806.2018242 -
Irish Journal of Medical Science Apr 2024Cardiac myxomas (CM) are one of the most common benign tumors which are typical in adults with a yearly incidence of 0.5-1 case per million individuals. This review... (Review)
Review
Cardiac myxomas (CM) are one of the most common benign tumors which are typical in adults with a yearly incidence of 0.5-1 case per million individuals. This review article includes discussions based on existing literature on the role of interleukin interactions in the pathophysiology of cardiac myxoma which can lead to embolic complications, aneurysms, and CNS involvement. The objective of this narrative review was to study the variable clinical presentations of cardiac myxoma, its detection and diagnosis involving multiple modalities like genetic and hematological testing, echocardiography, CT, and MRI, of which transoesophageal echocardiogram shows excellent precision with a 90% to 96% accuracy in diagnosing CM. Individuals with the Carney complex are prone to such neoplasia. Cardiac myxomas are challenging to diagnose due to the ambiguity of their differential with thrombi. Myxomas can also be diagnosed by tumor markers like interleukin-6 and endothelial growth factors. The management of CM includes surgical excision like median sternotomy and robotic minimally invasive surgery. The use of robotic surgery in CM increased from 1.8% in 2012 to 15.1% in 2018. Tumor recurrences are uncommon but can occur due to inadequate surgical resection.
Topics: Adult; Humans; Neoplasm Recurrence, Local; Heart Neoplasms; Myxoma; Echocardiography; Magnetic Resonance Imaging
PubMed: 37737916
DOI: 10.1007/s11845-023-03531-2 -
Nature Reviews. Nephrology Oct 2016The diagnosis and management of hypertension among patients on chronic dialysis is challenging. Routine peridialytic blood pressure recordings are unable to accurately... (Review)
Review
The diagnosis and management of hypertension among patients on chronic dialysis is challenging. Routine peridialytic blood pressure recordings are unable to accurately diagnose hypertension and stratify cardiovascular risk. By contrast, blood pressure recordings taken outside the dialysis setting exhibit clear prognostic associations with survival and might facilitate the diagnosis and long-term management of hypertension. Once accurately diagnosed, management of hypertension in individuals on chronic dialysis should initially involve non-pharmacological strategies to control volume overload. Accordingly, first-line strategies should focus on achieving dry weight, individualizing dialysate sodium concentrations and ensuring dialysis sessions are at least 4 h in duration. If blood pressure remains unresponsive to volume management strategies, pharmacological treatment is required. The choice of appropriate antihypertensive regimen should be individualized taking into account the efficacy, safety, and pharmacokinetic properties of the antihypertensive medications as well as any comorbid conditions and the overall risk profile of the patient. In contrast to their effects in the general hypertensive population, emerging evidence suggests that β-blockers might offer the greatest cardioprotection in hypertensive patients on dialysis. In this Review, we discuss estimates of the epidemiology of hypertension in the dialysis population as well as the challenges in diagnosing and managing hypertension among these patients.
Topics: Antihypertensive Agents; Blood Pressure Determination; Body Weight; Humans; Hypertension; Renal Dialysis
PubMed: 27573731
DOI: 10.1038/nrneph.2016.129 -
Seminars in Nuclear Medicine Jan 2015Radionuclide procedures frequently are performed as part of the diagnostic workup of osteomyelitis. Bone scintigraphy accurately diagnoses osteomyelitis in bones not... (Review)
Review
Radionuclide procedures frequently are performed as part of the diagnostic workup of osteomyelitis. Bone scintigraphy accurately diagnoses osteomyelitis in bones not affected by underlying conditions. Degenerative joint disease, fracture, and orthopedic hardware decrease the specificity of the bone scan, making it less useful in these situations. Gallium-67 scintigraphy was often used as an adjunct to bone scintigraphy for diagnosing osteomyelitis. However, now it is used primarily for spinal infections when (18)F-FDG imaging cannot be performed. Except for the spine, in vitro-labeled leukocyte imaging is the nuclear medicine test of choice for diagnosing complicating osteomyelitis. Leukocytes accumulate in bone marrow as well as in infection. Performing complementary bone marrow imaging with (99m)Tc-sulfur colloid facilitates the differentiation between osteomyelitis and normal marrow and improves test overall accuracy. Antigranulocyte antibodies and antibody fragments, such as (99m)Tc-besilesomab and (99m)Tc-sulesomab, were developed to eliminate the disadvantages associated with in vitro-labeled leukocytes. These agents, however, have their own shortcomings and are not widely available. As biotin is used as a growth factor by certain bacteria, (111)In-biotin is useful to diagnose spinal infections. Radiolabeled synthetic fragments of ubiquicidin, a naturally occurring human antimicrobial peptide that targets bacteria, can differentiate infection from sterile inflammation and may be useful to monitor response to treatment. (18)F-FDG is extremely useful in the diagnostic workup of osteomyelitis. Sensitivity in excess of 95% and specificity ranging from 75%-99% have been reported. (18)F-FDG is the radionuclide test of choice for spinal infection. The test is sensitive, with a high negative predictive value, and reliably differentiates degenerative from infectious vertebral body end-plate abnormalities. Data on the accuracy of (18)F-FDG for diagnosing diabetic pedal osteomyelitis are contradictory, and its role for this indication remains to be determined. Initial investigations suggested that (18)F-FDG accurately diagnoses prosthetic joint infection; more recent data indicate that it cannot differentiate infection from other causes of prosthetic failure. Preliminary data on the PET agents gallium-68 and iodine-124 fialuridine indicate that these agents may have a role in diagnosing osteomyelitis.
Topics: Animals; Humans; Osteomyelitis; Radionuclide Imaging; Radiopharmaceuticals
PubMed: 25475377
DOI: 10.1053/j.semnuclmed.2014.07.005 -
Nature Reviews. Endocrinology Aug 2015Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical... (Review)
Review
Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical approaches. Obtaining a specific diagnosis can be important for identifying potentially life-threatening associated disorders, as well as providing information to guide parents in deciding on the most appropriate management for their child. Within the past 5 years, advances in molecular methodologies have helped to identify several novel causes of DSDs; molecular tests to aid diagnosis and genetic counselling have now been adopted into clinical practice. Occasionally, genetic profiling of embryos prior to implantation as an adjunct to assisted reproduction, prenatal diagnosis of at-risk pregnancies and confirmatory testing of positive results found during newborn biochemical screening are performed. Of the available genetic tests, the candidate gene approach is the most popular. New high-throughput DNA analysis could enable a genetic diagnosis to be made when the aetiology is unknown or many differential diagnoses are possible. Nonetheless, concerns exist about the use of genetic tests. For instance, a diagnosis is not always possible even using new molecular approaches (which can be worrying for the parents) and incidental information obtained during the test might cause anxiety. Careful selection of the genetic test indicated for each condition remains important for good clinical practice. The purpose of this Review is to describe advances in molecular biological techniques for diagnosing DSDs.
Topics: Disorders of Sex Development; Female; Genetic Testing; Humans; Infant, Newborn; Male; Pathology, Molecular
PubMed: 25942653
DOI: 10.1038/nrendo.2015.69 -
Clinica Chimica Acta; International... Sep 2016Sepsis is the host response to microbial pathogens resulting in significant morbidity and mortality. An accurate and timely diagnosis of sepsis allows prompt and... (Review)
Review
Sepsis is the host response to microbial pathogens resulting in significant morbidity and mortality. An accurate and timely diagnosis of sepsis allows prompt and appropriate treatment. This review discusses laboratory testing for sepsis because differentiating systemic inflammation from infection is challenging. Procalcitonin (PCT) is currently an FDA approved test to aid in the diagnosis of sepsis but with questionable efficacy. However, studies support the use of PCT for antibiotic de-escalation. Serial lactate measurements have been recommended for monitoring treatment efficacy as part of sepsis bundles. The 2016 sepsis consensus definitions include lactate concentrations >2mmol/L (>18mg/dL) as part of the definition of septic shock. Also included in the 2016 definitions are measuring bilirubin and creatinine to determine progression of organ failure indicating worse prognosis. Hematologic parameters, including a simple white blood cell count and differential, are frequently part of the initial sepsis diagnostic protocols. Several new biomarkers have been proposed to diagnose sepsis or to predict mortality, but they currently lack sufficient sensitivity and specificity to be considered as stand-alone testing. If sepsis is suspected, new technologies and microbiologic assays allow rapid and specific identification of pathogens. In 2016 there is no single laboratory test that accurately diagnoses sepsis.
Topics: Biomarkers; Clinical Laboratory Techniques; Humans; Sensitivity and Specificity; Sepsis
PubMed: 27387712
DOI: 10.1016/j.cca.2016.07.002 -
The Journal of Bone and Joint Surgery.... Jul 2014The incidence of scapular winging is unclear, but it may be more common than previously thought. It can be difficult to diagnose because the presenting complaint and... (Review)
Review
BACKGROUND
The incidence of scapular winging is unclear, but it may be more common than previously thought. It can be difficult to diagnose because the presenting complaint and physical examination may direct the practitioner toward more common shoulder and neck conditions. Ongoing scapular dysfunction may result in inappropriate or failed surgery. Our goals were to (1) describe the common misdiagnoses (instability, labral abnormality, impingement, and cervical spine disease), the clinical scenarios and examination findings leading to diagnostic difficulty, the definitive treatment options available, and the clinical outcomes and complications; and (2) review the important aspects of the patient history, physical examination of the scapula, and associated studies necessary to make the correct diagnosis of scapular winging.
METHODS
We reviewed the literature relative to, and our own experience with, the treatment of scapular winging and identified a series of patients with this condition who were initially misdiagnosed with other shoulder or spine abnormalities. In our literature search, only nine clinical studies reported on a series of patients with scapular winging that was initially misdiagnosed or had a delay in diagnosis (n = 53 patients). We examined these cases for presenting or preexisting diagnoses and for surgical procedures that had been performed before the diagnosis of scapular winging.
RESULTS
For patients ultimately diagnosed with scapular winging, initial presentations and diagnoses included rotator cuff disorders (20%), glenohumeral instability (8%), peripheral nerve disorders (6%), cervical spine disease (6%), acromioclavicular disorders (6%), thoracic outlet syndrome (4%), and unknown or unspecified (41%). The most common surgical procedures performed before definitive scapular winging treatment were rotator cuff (22%), instability (22%), nerve (14%), acromioclavicular (12%), cervical spine (5%), and thoracic outlet (4%) procedures.
CONCLUSIONS
Clinically, scapular winging often mimics more common shoulder abnormalities and can result in unnecessary or unsuccessful surgical procedures. Diagnosis can be readily achieved with simple physical examination and specific provocative maneuvers in conjunction with electromyography and nerve conduction studies. Prompt diagnosis and recognition can avoid substantial shoulder dysfunction.
Topics: Algorithms; Diagnosis, Differential; Humans; Musculoskeletal Diseases; Physical Examination; Scapula; Shoulder
PubMed: 25031384
DOI: 10.2106/JBJS.M.01031 -
Preferred diagnostic methods of pyriform sinus fistula in different situations: A systematic review.American Journal of Otolaryngology 2023Pyriform sinus fistula (PSF) diagnosis is often easily delayed and incorrect. Diagnostic values of modalities vary in different situations. The aim of this study was to... (Review)
Review
PURPOSE
Pyriform sinus fistula (PSF) diagnosis is often easily delayed and incorrect. Diagnostic values of modalities vary in different situations. The aim of this study was to recommend optimal schemes for diagnosing PSF at different ages and infection stages.
METHODS
A search of PubMed, Embase, Cochrane Library, and CBM databases was conducted to identify articles written in Chinese and English concerning PSF diagnosis using keywords: "pyriform sinus fistula", "diagnosis", and relevant synonymous terms. Quality assessment was performed using the Joanna Briggs Institute (JBI) levels of evidence and critical appraisal checklist tool.
RESULTS
111 studies describing 3692 patients were included. The highest true positive rate (TPR) of ultrasonography was 66.67 % in adult cases. Computed tomography (CT) yielded a good TPR (approximately 73 %) in both neonatal and adult patients, and contrast-enhanced CT (84.21 %) was better in adult patients. Most children cases could be accurately diagnosed by barium swallow (BS) examination which was significantly different in acute and non-infection stages (AIS, NIS). Magnetic resonance imaging (MRI) produced a nice TPR in fetal cases (69.23 %) and neonatal cases (54.44 %). Laryngoscopy was also affected by infection stages. TPR of gastroscopy (GS) was the highest in children (86.36 %) and adult cases (87.50 %).
CONCLUSION
For fetal cases suspected of PSF, an MRI is recommended. MRI or CT is preferred for neonatal cases regardless of infection stages. Children and adult patients are advised to undergo GS during NIS or AIS, while BS is suggested for NIS. Contrast-enhanced CT can also diagnose adults with PSF in AIS.
Topics: Child; Infant, Newborn; Humans; Pyriform Sinus; Tomography, X-Ray Computed; Ultrasonography; Laryngoscopy; Fistula; Retrospective Studies
PubMed: 36584597
DOI: 10.1016/j.amjoto.2022.103747 -
European Radiology Dec 2023PSC strictures are routinely diagnosed on T2-MRCP as dominant- (DS) or high-grade stricture (HGS). However, high inter-observer variability limits their utility. We...
OBJECTIVES
PSC strictures are routinely diagnosed on T2-MRCP as dominant- (DS) or high-grade stricture (HGS). However, high inter-observer variability limits their utility. We introduce the "potential functional stricture" (PFS) on T1-weighted hepatobiliary-phase images of gadoxetic acid-enhanced MR cholangiography (T1-MRC) to assess inter-reader agreement on diagnosis, location, and prognostic value of PFS on T1-MRC vs. DS or HGS on T2-MRCP in PSC patients, using ERCP as the gold standard.
METHODS
Six blinded readers independently reviewed 129 MRIs to diagnose and locate stricture, if present. DS/HGS was determined on T2-MRCP. On T1-MRC, PFS was diagnosed if no GA excretion was seen in the CBD, hilum or distal RHD, or LHD. If excretion was normal, "no functional stricture" (NFS) was diagnosed. T1-MRC diagnoses (NFS = 87; PFS = 42) were correlated with ERCP, clinical scores, labs, splenic volume, and clinical events. Statistical analyses included Kaplan-Meier curves and Cox regression.
RESULTS
Interobserver agreement was almost perfect for NFS vs. PFS diagnosis, but fair to moderate for DS and HGS. Forty-four ERCPs in 129 patients (34.1%) were performed, 39 in PFS (92.9%), and, due to clinical suspicion, five in NFS (5.7%) patients. PFS and NFS diagnoses had 100% PPV and 100% NPV, respectively. Labs and clinical scores were significantly worse for PFS vs. NFS. PFS patients underwent more diagnostic and therapeutic ERCPs, experienced more clinical events, and reached significantly more endpoints (p < 0.001) than those with NFS. Multivariate analysis identified PFS as an independent risk factor for liver-related events.
CONCLUSION
T1-MRC was superior to T2-MRCP for stricture diagnosis, stricture location, and prognostication.
CLINICAL RELEVANCE STATEMENT
Because half of PSC patients will develop clinically-relevant strictures over the course of the disease, earlier more confident diagnosis and correct localization of functional stricture on gadoxetic acid-enhanced MRI may optimize management and improve prognostication.
KEY POINTS
• There is no consensus regarding biliary stricture imaging features in PSC that have clinical relevance. • Twenty-minute T1-weighted MRC images correctly classified PSC patients with potential (PFS) vs with no functional stricture (NFS). • T1-MRC diagnoses may reduce the burden of diagnostic ERCPs.
Topics: Humans; Cholangiopancreatography, Magnetic Resonance; Constriction, Pathologic; Cholangitis, Sclerosing; Retrospective Studies; Magnetic Resonance Imaging; Cholangiopancreatography, Endoscopic Retrograde
PubMed: 37470827
DOI: 10.1007/s00330-023-09915-3