Stepwise Diagnostic Approach Research Articles

Diagnostic assessment of hematuria from the ileal conduit of a patient with a history of radical cystoprostatectomy and nephroureterectomy: a case report

Background: Radical cystoprostatectomy (RC) with ileal conduit reconstruction represents a standard of care procedure for advanced bladder cancer. Patients submitted to RC and urinary diversions are at high risk of developing recurrent tumors or other complications related to the diversion. Lifelong diagnostic follow-up is recommended in these patients. Case Presentation: We present a case of a patient with a history of RC and nephroureterectomy for upper tract recurrence and who also developed gross hematuria 8 years after his initial treatment. The patient was exposed to several diagnostic steps, including imaging, laboratory, and endoscopic examinations. Conclusion: Patients with advanced and recurrent urothelial cancer who present with gross hematuria need a stepwise diagnostic approach which is difficult and complicated in many cases.

The diagnostic approach to anaemia in the dog and cat

The term anaemia indicates a pathologic condition characterized by a decreased concentration of hemoglobin (Hb) in blood, usually associated with a decreased number of erythrocytes (RBC) and/or of hematocrit (Ht). Anaemia depends on two pathogenic mechanisms: 1) decreased RBC production due toxic, infectious or idiopathic bone marrow diseases or to metabolic, neoplastic or infectious diseases that secondarily affect erythropoiesis, leading to the so-called “non regenerative anaemia”, on which no reticulocytes are released in blood from bone marrow; 2) decreased lifespan of mature RBC due to acute blood loss or hemolysis that leads to “regenerative anaemia” in which reticulocytes are released in blood as an attempt to restore the RBC mass. A stepwise diagnostic approach to anaemic dogs and cats may allow first to identify which of the two mechanisms is involved in the pathogenesis of anaemia, then to identify the possible cause of decreased RBC production or of decreased RBC lifespan. This approach must include clinical data, information regarding gross appearance of the sample, actual values of RBC counts, Ht and Hb concentration, RBC indexes (MCV, MCH, MCHC, RDW) and the magnitude of the reticulocyte response. Morphology of blood cells and additional laboratory tests may further address the diagnosis. With rare exceptions, non regenerative anaemia is normocytic normochromic,while regenerative anaemia is macrocytic hypochromic and characterized by anisocytosis and polychromasia, since reticulocytes are larger and have less Hb than mature RBC. However, blood loss or hemolytic anaemia are initially “pre-regenerative” (normocytic and normochromic), then they shift to the macrocytic hypochromic pattern in a few days, when reticulocytosis becomes relevant. Microcytic hypochromic anaemia is usually associated with iron deficiency. Once anaemia is classified into one of the categories listed above, morphology of RBC may suggest the possible cause, especially in regenerative anaemia, when the shape of RBC may be consistent with oxidative damage (eccentrocytes, Heinz bodies), immune-mediated mechanisms (agglutination, spherocytes, schistocytes, etc) or infectious diseases (e.g. mycoplasmosis, babesiosis). If needed, bone marrow cytology, Coomb’s test or flow cytometric detection of anti-RBC antibodies, coagulation profiles or additional biochemical or serological tests may be used to finalize the diagnostic approach.

Study protocol for a matter of heart: a qualitative study of patient factors driving overuse of cardiac catheterisation

IntroductionOveruse of cardiac catheterisation (CC) for stable coronary artery disease (CAD) is documented in Germany and other regions, although percutaneous coronary interventions do not provide a benefit over medical therapy...

Downstream overdrive pacing and intracardiac concealed fusion to guide rapid identification of atrial tachycardia after atrial fibrillation ablation.

Atrial tachycardia (AT) related to atrial fibrillation (AF) ablation frequently poses a diagnostic challenge. Downstream overdrive pacing (DOP) can be used to rapidly detect reentry and assess proximity of a pacing site to an AT circuit or focus. We hypothesized that systematic DOP using multielectrode catheters would facilitate AT mapping. DOP identified constant fusion when the post-pacing interval (PPI)-tachycardia cycle length (TCL) <40 ms and stimulus to adjacent upstream atrial electrogram interval >75% of TCL. Mapping was performed as follows: (i) CS DOP, (ii) DOP at left atrial (LA) roof, (iii) DOP at selected LA sites based on prior DOP attempts, and (iv) mapping and ablation at regions of fractionated electrograms in region of AT. Activation mapping was performed at operator discretion. AT diagnosis was confirmed by successful ablation or additional mapping when ablation was unsuccessful. Fifty consecutive patients with sustained AT underwent mapping of 68 ATs, of whom 42 (62%) were macroreentrant, 19 were locally reentrant (28%), and 7 (10%) were focal. AT was correctly identified with a median of three DOP attempts. All macroreentrant ATs were identified with ≤6 DOP attempts. One AT (1.6%) was terminated by DOP, and three ATs (4.8%) required activation mapping. Intracardiac concealed fusion was seen in 26 ATs (38%), each of which was successfully ablated. Reentry could be demonstrated in a substantial majority of AF ablation-related AT. A stepwise diagnostic approach using DOP and recognition of intracardiac concealed fusion can be used to rapidly identify and ablate reentrant AT.

Management of Chronic Pancreatitis

Chronic pancreatitis (CP) is a syndrome that is characterized by inflammation, irreversible fibrosis, and loss of acinar and islet cells. It has also been described as an “enigmatic process of uncertain pathogenesis, unpredictable clinical course, and unclear treatment.” This review describes the epidemiology, diagnosis, diagnostic challenges, differential diagnosis, treatment, complications, and clinical course and prognosis of CP, as well as future challenges. Figures show a computed tomographic (CT) scan of calcific CP, a secretin-enhanced magnetic resonance cholangiopancreatogram showing a dilated and tortuous main pancreatic duct, a CT scan of a large chronic pseudocyst compressing the stomach and pancreas, an endoscopic ultrasound (EUS) image of CP, a retrograde pancreatogram showing a dilated main pancreatic duct with stones and “blunted” side branches, sources of pain in CP, neuropathic pain mechanisms in CP, and an algorithm summarizing treatment of pain in CP. Tables list the TIGAR-O etiologic classification of CP, standard criteria for diagnosis of CP by EUS, Cambridge endoscopic retrograde cholangiopancreatography grading for CP, and a stepwise radiographic and endoscopic diagnostic approach to patients with suspected CP. Key words: bile duct obstruction, chronic pancreatitis, pancreatic calcifications, TIGAR-O system This review contains 8 highly rendered figures, 4 tables, and 54 references.

Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia. A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters. The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%). 46,XY DSD was most common (68·2%, n = 195), 46,XX DSD was found in 23·4% (n = 67) and sex chromosomal DSD in 8·4% (n = 24). In 61·2% of 46,XX DSD patients, 17·9% of 46,XY DSD patients and all sex chromosome DSD patients (29·4% in total), a final diagnosis was reached based on genetic or histological gonadal tissue evaluation. 17-hydroxyprogesterone and androstenedione levels were the most distinctive parameters in 46,XX DSD patients. In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). LH, FSH and testosterone levels were most informative especially in the older age group. HCG tests were of no additional value as no patients with androgen synthesis disorders were found. Hormonal profiles of patients with sex chromosome DSD and a Y-chromosome sequence containing karyotype showed high levels of LH and FSH, and low levels of AMH, inhibin B and testosterone compared with the normal male range. Gene mutations were found in all patients with CAH, but in only 24·5% and 1·8% of patients with AAD and UMU. In 32% of 46,XY GD patients, copy number variants of different genes were found. A stepwise diagnostic approach led to a molecularly or histologically proven final diagnosis in 29·4% of the patients. The most informative parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients, and serum LH, FSH and testosterone levels in 46,XY DSD patients.

Screening agars for MRSA: evaluation of a stepwise diagnostic approach with two different selective agars for the screening for methicillin-resistant Staphylococcus aureus (MRSA).

BackgroundColonization with methicillin-resistant Staphylococcus aureus (MRSA) poses a hygiene risk that does not spare field hospitals or military medical field camps during military deployments. Diagnostic options for unambiguously identifying MRSA isolates are usually scarce in military environments. In this study, we assessed the stepwise application of two different selective agars for the specific identification of MRSA in screening analyses.MethodsNasal swabs from 1541 volunteers were subjected to thioglycollate broth enrichment and subsequently screened on CHROMagar MRSA selective agar for the identification of MRSA. The MRSA identity of suspicious-looking colonies was confirmed afterwards or excluded by another selective agar, chromID MRSA. All isolates from the selective agars with MRSA-specific colony morphology were identified by biochemical methods and mass spectrometry.ResultsThe initial CHROMagar MRSA screening identified suspicious colonies in 36 out of 1541 samples. A total of 25 of these 36 isolates showed MRSA-like growth on chromID agar. Out of these 25 isolates, 24 were confirmed as MRSA, while one isolate was identified as Staphylococcus kloosii. From the 11 strains that did not show suspicious growth on chromID agar, 3 were methicillin-sensitive Staphylococcus aureus (MSSA, with one instance of co-colonization with Corynebacterium spp.), 2 were confirmed as MRSA (with 1 instance of co-colonization with MSSA), 2 were lost during passaging and could not be re-cultured, one could not be identified by the applied approaches, and the remaining 3 strains were identified as Staphylococcus saprophyticus, Staphylococcus hominis (co-colonized with Macrococcus caseolyticus) and Staphylococcus cohnii, respectively.ConclusionsThe application of the selective agar CHROMagar MRSA alone proved to be too non-specific to allow for a reliable diagnosis of the presence of MRSA. The combined use of two selective agars in a stepwise approach reduced this non-specificity with an acceptably low loss of sensitivity. Accordingly, such a stepwise screening approach might be an option for resource-restricted military medical field camps.

The controversial role of food allergy in infantile colic: evidence and clinical management.

Food allergies (FAs) are an increasing problem in Western countries, affecting up to 10% of young children. FAs are frequently associated with gastrointestinal manifestations. The role of FAs as a potential causative factor for infantile colic (IC) is still controversial. We report the most recent evidence on the pathogenesis, clinical and diagnostic aspects of FA-induced infantile colic (IC) and suggest a stepwise diagnostic approach. We selected articles on clinical and immunologic features, pathogenesis and management of FAs and IC from of 1981 to 2015. Original and review articles were identified through selective searches performed on PubMed, using the following terms: colic, infantile colic, food allergy and infantile colic, infantile colic treatment. The possible relationship between FAs and IC derives from the presence of dysmotility with visceral hypersensitivity and dysbiosis, demonstrated in both conditions, and the clinical response to dietary interventions. Unfortunately, the design of the studies, poor characterization of atopy and different dietary approaches limit the understanding of the importance of FAs in subjects with IC. The role of FAs in IC subjects without other symptoms of atopy remains controversial. However, where there is a suspicion of FAs, a short trial with an extensively hydrolyzed cow’s proteins formula or, if breast fed, with maternal elimination diet may be considered a reasonable option.

Four Steps in Diagnosing Complete Agenesis oftheCorpus Callosum in Prenatal Life.

Among congenital brain anomalies, complete agenesis of the corpus callosum (cACC) including cases of callosal hypoplasia has a prevalence of 1.8 per 10 000 in the general population. It is also one of the most challenging brain anomalies to detect during the mid-trimester ultrasound scan. Standard axial planes do not provide enough information to make the definitive diagnosis of cACC. From our library of images and ultrasound reports, we reviewed our most recent cases of complete agenesis of the corpus callosum in the fetus at the mid-trimester scan. In our analysis we included only cases that were confirmed postnatally or by autopsy. Exams were performed between January 2010 and June 2012. All of the patients were scanned transabdominally by means of 2 D and static 3 D. From the 2 D and 3 D images we identified 4 anatomical views that consistently gave us enough information to identify cACC: axial biparietal transthalamic view (AX1); axial biparietal falx view (AX2); coronal transthalamic view (COR); mid-sagittal view (SAG). From our library 30 cases were selected with confirmed cACC postnatally or in autopsy findings. The mean gestational age at the time of referral to our center was 20.7 weeks (range 19 - 23 weeks). In all analyzed cases sufficient 2 D images were found and in 93.3 % of them informative 3 D volumes were also available for off-line review. We identified the following patterns of cACC at the mid-trimester scan: A- normal size of 3 rd ventricle + normal size of the lateral ventricles or mild ventriculomegaly; B1- dilated 3 rd ventricle + normal size of the lateral ventricles; B2- dilated 3 rd ventricle + mild or moderate ventriculomegaly; C- dilated 3 rd ventricle + severe ventriculomegaly; D- gross dilatation of 3 rd ventricle with the appearance of interhemispheric cyst. The AX1 view revealed: absence of the cavum septum pellucidi in all cases; dilatation of the third ventricle in 86.6 % of cases; separation of frontal horns in 83.3 % of cases; ventriculomegaly in 73.3 % of cases, including 13.6 % with severe forms. The AX2 view showed separation of the interhemispheric fissure (IHF) in 90 % of cases and upward displacement of the 3 rd ventricle in 80 % of cases. The COR view confirmed separation of the interhemispheric fissure in 90 % of cases including gross separation in 7.4 % of cases; absence of CC fibers at this level and descent of the falx towards the roof of the 3 rd ventricle in all cases, and upward displacement of the 3 rd ventricle in 80 % of cases. The SAG view revealed the absence of the CSP-CC complex in all cases and dilatation of the 3 rd ventricle in 86.6 % of cases. 1. We suggest a stepwise ultrasound diagnostic approach for cACC and variations of this condition. 2. We suggest a classification of characteristic patterns found in fetuses with proven cACC based on findings presented in axial views.

Bleeding issues in neonates and infants – update 2015

The presentation of a neonate with clinical bleeding symptoms commonly causes considerable anxiety to parents and treating physicians. Since inherited coagulation disorders are rare many children with persistently abnormal coagulation screens will have an underlying bleeding disorder. Apart from emergency cases a family history including a bleeding questionnaire is mandatory asking for the onset and/or severity symptoms of hemorrhage prior to laboratory assessment. The absolute values of reference ranges for coagulation assays in neonates and children vary with analyzer and reagent systems, but confirm the concept of developmental hemostasis, showing that physiologic concentrations of coagulation proteins gradually increase and are lower in premature infants as compared to full-term babies or healthy children. The evaluation should include global screening tests and a full blood cell count to rule out thrombocytopenia. As in adults a prolonged PT in neonates reflects decreased plasma concentrations of vitamin-K-dependent factors, whereas the prolonged PTT stems from decreased plasma levels of contact factors. When initial laboratory test results reveal abnormalities, as compared to age-related values, a stepwise diagnostic approach should be followed. In the bleeding neonate or infant that has no laboratory abnormality, FXIII and alpha2-antiplasmin activity should be assessed, and when primary hemostatic defects are suspected, platelet function should be further evaluated. Treatment options of a bleeding neonate vary according to the underlying medical condition.

Brugada phenocopy induced by ischemia or Brugada syndrome unmasked by ischemia?

We read the casereport by Jiang et al. with great interest and notedthat their patient presented with a Type-1 Brugada ECG pattern after aradiofrequency catheter ablation procedure for atrial fibrillation [1].The caseis important asit contributesto thegrowingbodyof literatureon Brugada phenocopy (BrP) [2,3].BrP are clinical entities that present with ECGs identical to those oftrueBrugadasyndrome(BrS)butareelicitedbyvariousclinicalcircum-stances [2,3]. They may be induced by a number of clinical conditionsthat are characterized into six etiological categories: (i) metabolicconditions; (ii) mechanical compression; (iii) myocardial ischemia p (iv) myocardial & pericardial disease; (v) ECGmodulations; and (vi) miscellaneous [4]. The hallmark to diagnosislies in a series of electrocardiographic and clinical features (Table 1)that aim to differentiate BrP from BrS [5,6]. More information onthe condition and a stepwise diagnostic approach can be found at theinternational registry and online educational portal for BrP (www.brugadaphenocopy.com).In the case presented by Jiang et al. [1], the patient developed aBrugada ECG pattern and a marked increase in troponin I (TnI) follow-ing an ablation procedure for atrial fibrillation. We agree with theauthors that the mechanism behind this phenomenon was unlikelydue to coronary vasospasm as the ST-elevations were sustained over anumber of days. Michael et al. described a similar case of ST-segmentelevations that occurred during an ablation procedure for atrialfibrillation [7]. An urgent coronary angiogram revealed a sub-totalocclusion within the inferior branch of the 1st diagonal. We suspectthat ischemia was alsothelikely mechanismbehindST-segment eleva-tions and increased TnI in the present case [1]. Blood clots may beextremely small, and lysis of these clots can occur in a matter of mi-nutes.Itisconceivabletherefore,thatthiswasanembolicphenomenonthat was not captured by coronary angiography.As previously discussed by our group [3], ischemia may eitherinduce a BrP [5] or modulate myocardial sodium channels resulting intheunmaskingoftrueBrS[8].Aprovocativetestusingasodiumchannelblocker was therefore mandatory in this case. The negative result,coupled with the patient's lack of personal or family history suggestiveof BrS, allows us to confirm the diagnosis of BrP in this case. It will beincluded in our database as a Type 1A BrP under the category of ische-mia and pulmonary embolism. We recommend the authors use theterminologyBrugadaphenocopyinthefutureforconsistencyintheliter-ature and to facilitate future research on this clinical phenomenon.Conflict of interestNoneReferences

Distress in suspected lung cancer patients following rapid and standard diagnostic programs: a prospective observational study.

Timeliness may influence emotional distress during the diagnostic phase of suspected lung cancer patients. We performed a prospective observational study to compare distress and quality of life (QoL) in two medical centres with a Rapid Outpatient Diagnostic Program (RODP) and two using conventional Stepwise Diagnostic Approach (SDA) on the basis of trained nurse-led care. Outpatients with radiological suspicion of lung cancer completed the Hospital Anxiety and Depression Scale (HADS), European Organization for Research and Treatment of Cancer 30-item Quality of Life Questionnaire (QLQ-C30) and its 13-item Lung Cancer specific module (QLQ-LC13) upon first visit, 2 days later, thereafter weekly for 5 weeks and after 3 months. The 72 SDA patients and 121 RODP patients had a mean pre-diagnostic HADS-total score of 13.5 (SD 7.6); 63.4% had a score ≥10. Baseline QLQ-C30 global QoL was 61.6 (SD 22.7) exceeding reference values for lung cancer patients. Generalized least square models showed a significant centre by time interaction effect: during the first 6 weeks, HADS-total scores decreased in RODP patients (13.8-11.9) but sustained in SDA patients (13.1-13.6), whereas QoL showed no relevant changes. Times to diagnosis and discussion of therapy plan for RODP patients were 7 and 11 days shorter, respectively. Suspected lung cancer patients had high baseline distress levels. A decrease over time was found in RODP compared with SDA patients. QoL did not change relevantly. Albeit observational, these data indicate that patients experience less distress in rapid diagnostic programs than in stepwise diagnostic evaluation.

Ileal pouch fistulas after restorative proctocolectomy: management and outcomes

Fistula between an ileal pouch and the vagina, anus, or perineum is an uncommon complication of ileal pouch-anal anastomosis and is a cause of considerable morbidity. Its optimal management has not been determined because of its low incidence. The aim of this study was to review the outcomes of patients who presented with symptomatic ileal pouch-associated fistulas after restorative proctocolectomy (RPC) and to present a diagnostic and treatment algorithm. Retrospective review of patients treated for symptomatic ileal pouch-associated fistulas after RPC from 1989 to 2011. Twenty-five patients (14 men, mean age 40 years) were presented with symptomatic ileal pouch-associated fistulas. Median time to pouch fistula following RPC was 6.9 years (range 1 month-20 years). Fistulas were classified as pouch-anal (n = 12, 48 %), pouch-vaginal (n = 7, 28 %), complex (n = 4, 16 %), and pouch-perineal (n = 2, 8 %). Etiology included Crohn's disease (n = 15, 60 %), cryptoglandular (n = 6, 24 %), and anastomotic failure (n = 4, 16 %). Each patient underwent an average of 2.8 local procedures or repairs. Overall healing rate was 64 % at a median follow-up of 29 (range 2-108) months. None of the complex fistulas were healed. Postoperative pelvic sepsis, fecal diversion, anti-tumor necrosis factor therapy, and fistula etiology did not significantly impact fistula healing. Three patients required pouch excision with end ileostomy. Operative treatment of pouch fistulas after RPC resulted in complete healing in 64 % of patients following a stepwise diagnostic and therapeutic approach.

Pathology Consultation on Intermediate-to-Large B-Cell Lymphomas

Intermediate-to-large B-cell lymphomas represent a heterogeneous group of aggressive lesions frequently encountered in practice. The differential diagnosis includes the most common of all lymphomas, diffuse large B-cell lymphoma (DLBCL), as well as Burkitt lymphoma (BL), B-lymphoblastic lymphoma, and the blastoid variant of mantle cell lymphoma. In recent decades, gene expression profiling studies have clarified the biologic origins and features of these diseases. Moreover, clinically relevant subtypes of DLBCL have been identified, and a new category was defined: B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL. Herein, we review the salient diagnostic features of the various entities within this differential diagnosis and provide a stepwise diagnostic approach for dealing with challenging cases. A case-based approach is used to highlight diagnostic dilemmas and clinical decision points within the differential diagnosis of intermediate-to-large B-cell lymphomas. Based on the published literature and World Health Organization criteria, we suggest a diagnostic algorithm for appropriate classification of these lymphomas. Correct classification of intermediate-to-large B-cell lymphomas is important, because prognosis and therapeutic approach vary for different tumors and tumor subclasses. Understanding both disease-specific criteria and pathologic features that influence clinical behavior within a category is imperative for evaluation of these lymphomas.

Chronic cough - assessment of treatment efficacy based on two questionnaires.

IntroductionEfficacy of chronic cough treatment is ambiguous. The aim of the study was to analyze chronic cough alleviation after specific treatment and the relationship between cough etiology and treatment efficacy.Material and methodsA stepwise diagnostic approach was used to diagnose cough etiology in non-smoking adults with chronic cough. In all patients specific treatment was applied. Two different questionnaires – a visual analog scale and a 5-degree scale – were used to assess cough severity before and after 4-6 months of treatment.ResultsA significant correlation between pre-treatment and post-treatment results of both questionnaires was found (Spearman coefficient 0.43, p = 0.0003 and 0.73, p < 0.0001, respectively). Baseline questionnaire analysis revealed no differences in cough severity between patients with different cough causes or multiple cough causes. Although specific treatment resulted in a significant decrease of cough severity in the entire group, only partial improvement was noted. According to the visual analogue scale, a decrease of cough severity by at least 50% was achieved only in 54.4% of patients (37/68). Similarly, satisfactory improvement was noted in only 54.4% (37/68) of patients when using the 5-point scale. There were three sub-groups of patients, in whom no relevant decrease of cough severity was observed despite treatment: patients with 1. three coexisting cough causes, 2. non-asthmatic eosinophilic bronchitis, and 3. chronic idiopathic cough.ConclusionsCough severity does not depend on its etiology. Efficacy of chronic cough treatment in non-smoking patients is only moderate.

Metachronous Collision Tumors of the Thyroid Gland Unveiled in Real Time by a Change in the Thyroid Nodule Phenotype

Introduction: The term collision tumor refers to the coexistence of two histologically distinct neoplastic tumors within the same mass. Collision tumor of the thyroid (also referred to as tumor-to-tumor metastasis) with metastatic colorectal carcinoma to a preexisting thyroid adenomatoid nodule is rare. Preoperative diagnosis of this disorder is exceedingly difficult. This report highlights the rare occurrence of a tumor-to-tumor metastasis of colorectal cancer to a preexisting thyroid adenomatoid nodule unveiled in real time by serial positron emission tomography CT scans (PET/CT). Since cytological diagnosis of these lesions is often insufficient, we present a stepwise diagnostic approach with a combination of investigations in the preoperative setting. The patient management is reviewed together with a rationalized use of targeted therapy based on the genetic status of the tumor. Methods: Ultrasound (US)-guided fine needle aspiration (FNA) biopsies of the collision tumor of thyroid were performed and analyzed for cytologic, immunologic, and molecular tumor phenotyping. KRAS gene analysis of the metastatic lesion was also performed. Results: The samples revealed adenocarcinoma of the colon (Tg-negative, TTF-1-negative, HBME-1-negative, galectin-3 negative, CEA-positive, CK-20 positive) intense glucose transporter-1(GLUT-1) expression and KRAS positivity. The patient was then brought to surgery for a left hemithyroidectomy and ipsilateral central compartment node dissection. Final histology revealed metastatic colonic carcinoma, invading the benign adenomatoid nodule. His recovery was uneventful and the post-op chemotherapeutic regimen was guided by the KRAS analysis of the tumor. Conclusion: Once a collision tumor of the thyroid gland is suspected on PET/CT, the lesion should be corroborated by sonography of the thyroid gland. FNA with combined cytological, immunocytochemical and when necessary KRAS gene analysis can lead to a timely diagnosis and a treatment plan. In the context of limited systemic malignant disease and good performance status, palliative thyroidectomy with or without combined chemotherapy may control local disease and prevent tracheal invasion.

Primary Angiitis of the Central Nervous System and Reversible Cerebral Vasoconstriction Syndrome

Primary angiitis of the central nervous system (PACNS) is one of the most devastating pathologic processes that affect the central nervous system (CNS). It results in exclusive inflammation and destruction of CNS blood vessels. Progressive debilitating unexplained neurological deficit associated with abnormal cerebrospinal fluid (CSF) analysis findings is the typical picture of the disease. CNS biopsy is the gold standard diagnostic test. Immunosuppressive therapy is the core treatment. Reversible cerebral vasoconstriction syndrome (RCVS) is a main mimic of PACNS. RCVS is characterized clinically by recurrent thunderclap headache with or without neurological deficit and normal CSF analysis findings and angiographically by reversible diffuse segmental vasospasm of intracranial vessels. A stepwise diagnostic approach should be followed to differentiate PACNS from RCVS and exclude the other clinical, radiographic, and angiographic mimics.

Pattern and Timing of the Coronary Sinus Activation to Guide Rapid Diagnosis of Atrial Tachycardia After Atrial Fibrillation Ablation

Atrial tachycardias (AT) during or after ablation of atrial fibrillation frequently pose a diagnostic challenge. We hypothesized that both the patterns and the timing of coronary sinus (CS) activation could facilitate AT mapping. A total of 140 consecutive postpersistent atrial fibrillation ablation patients with sustained AT were investigated by conventional mapping. CS activation pattern was defined as chevron or reverse chevron when the activations recorded on both the proximal and the distal CS dipoles were latest or earliest, respectively. The local activation of mid-CS was timed with reference to Ppeak-Ppeak (P-P) interval in lead V1. A ratio, mid-CS activation time to AT cycle length, was computed. Of 223 diagnosed ATs, 124 were macroreentrant (56%) and 99 were centrifugal (44%). When CS activation was chevron/reverse chevron (n=44; 20%), macroreentries were mostly roof dependent. With reference to P-P interval, mid-CS activation timing showed specific consistency for peritricuspid and perimitral AT. Proximal to distal CS activation pattern and mid-CS activation at 50% to 70% of the P-P interval (n=30; 13%) diagnosed peritricuspid AT with 81% sensitivity and 89% specificity. Distal to proximal CS activation and mid-CS activation at 10% to 40% of the P-P interval (n=44; 20%) diagnosed perimitral AT with 88% sensitivity and 75% specificity. The analysis of the patterns and timing of CS activation provides a rapid stratification of most likely macroreentrant ATs and points toward the likely origin of centrifugal ATs. It can be included in a stepwise diagnostic approach to rapidly select the most critical mapping maneuvers.

A cohort description and analysis of the effect of gabapentin on idiopathic cough

BackgroundChronic idiopathic cough (known as cough hypersensitivity syndrome) is defined by cough in the absence of an identifiable cause. Gabapentin has been suggested as a treatment but evidence is scarce. The aim of our study was to describe the clinical features of patients with unexplained chronic cough and to investigate the effect of gabapentin (600 mg twice a day for a minimal duration of 4 weeks) in reducing cough symptoms.MethodsA patient cohort analysis was performed. Patients were retrieved using a query in our medical database for the words ‘cough’ and ‘gabapentin’ in 2011. Patients without a clear etiology of cough despite having performed a stepwise diagnostic approach, were included. Medical records of these patients were analyzed. A telephonic survey was performed and patients were asked to retrospectivally rate their cough when they attended the outpatient clinic. They were then asked to rate their cough after treatment with gabapentin. A scale from one to ten was used to score cough severity. They were also questioned about the triggers inducing cough. To evaluate the cough severity score, the results were correlated with questions of the Leicester Cough Questionnaire.ResultsWe recruited 51 patients (87% female) with a mean age of onset of 47 years (± 14 y) and an average cough duration of 48 months. The most frequently reported cough triggers included change of temperature (57%), talking (49%) and odours (45%). In 67% of patients, the urge to cough was located in the throat area. Thirty-five patients effectively took the prescribed gabapentin. The average improvement in cough score was 2.8/10 (p<0.0001). Of the 35 patients, 20 achieved improvement of their cough symptoms. Responders had a higher pre-treatment cough severity score (p=0.02) and were more likely to have a history of pre-cough airway infection (p=0.04). Current cough severity score negatively correlated with the Leicester Cough Questionnaire scores (p=0.05).ConclusionChronic idiopathic cough were predominantly middle-aged women, frequently reporting various cough triggers. We also demonstrated that gabapentin can significantly improve cough in these patients. Responders tend to have higher pre-treatment severity scores and have a history of an airway infection.

Papillary thyroid microcarcinoma presenting as lymph node metastasis – a diagnostic challenge: case report and systematic review of literature

Papillary thyroid microcarcinomas (PTMCs) have an excellent prognosis, although a few may metastasize to cervical lymph nodes. However, an infiltrated palpable neck node without evidence of thyroid disease at presentation is uncommon. We report a patient with PTMC presenting as a solitary lymph node metastasis without evidence of primary thyroid tumor in thyroid imaging and with inconclusive lymph node fine-needle biopsy (FNB) cytology. In our case, node excision and histological examination set the diagnosis and immunocytochemical staining of the FNB specimens verified it. A systematic review of reported similar cases was performed; relevant diagnostic dilemmas were also summarized. The clinical presentation of this type of papillary carcinoma becomes evident at a relatively younger age and affects almost equally the two genders; the enlarged lymph node is almost exclusively ipsilateral to the primary tumor, which may be unifocal or multifocal and is difficult to detect by thyroid imaging modalities. Lymph node FNB cytology, thyroglobulin (Tg) measurement in the washout liquid of the FNB needle, FNB immunocytochemistry and lymph node excision accompanied by histological examination provide a stepwise diagnostic approach. We conclude that PTMC may present as a lymph node metastasis without evidence of a primary thyroid tumor. In such cases, thyroid malignancy should be suspected and, in the presence of negative or non-diagnostic lymph node FNB cytology, measurement of Tg in the fluid aspirate should be performed.