Diagnostic yield of muscle biopsy in infants: Retrospective analysis of clinical and histopathologic findings

2021 ◽  
Author(s):  
Hülya Maraş Genç ◽  
Alev Güven ◽  
Beril Talim
2020 ◽  
Vol 42 (1) ◽  
pp. 36-39
Author(s):  
Bala R Malla ◽  
Suyog Simkhada

Introduction Rectal bleeding indicates the bleeding from lower gastro-intestinal tract occurring distal to ligaments of Treitz. Annual incidence of per rectal bleeding has been estimated to be 20% . Colonoscopy is the examination of choice for investigation. The objective of this study is to know the diagnostic yield of colonoscopy in cases with per rectal bleeding and to know the common causes of per rectal bleeding in adults MethodsOne hundred and twenty-nine adult patients, age more than 18years, who presented to Surgical OPD and ward of Dhulikhel Hospital during the year 2018 and 2019 were taken for the study irrespective of their sex. All the patients were subjected to fibre-optic colonoscopy after necessary preparation and the findings were recorded. Diagnosis was based on colonoscopic and histopathologic findings. ResultsA total of 129 (77 male and 52 female )patients with per rectal bleeding were evaluated with colonoscopy. The age ranged from 18 years to 79 years with the mean age 42.25 (SD+/- 15.29). Colonoscopy showed abnormalities in 102 patients (79.06%). The most common finding was hemorrhoids in 36 patients (27.90%) followed by colorectal malignant mass in 20 patients (15.50%). Polyps were diagnosed as the cause of rectal bleeding in 14 patients (10.84%). ConclusionColonoscopy has good diagnostic yield at evaluating cases with per rectal bleeding. Hemorrhoids, colorectal malignant mass and polyps are the common causes producing PR bleeding in Nepalese adult population.


2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Edmundo R. Rubio ◽  
Susanti R. le ◽  
Ralph E. Whatley ◽  
Michael B. Boyd

Forceps biopsies of airway lesions have variable yields. The yield increases when combining techniques in order to collect more material. With the use of cryotherapy probes (cryobiopsy) larger specimens can be obtained, resulting in an increase in the diagnostic yield. However, the utility and safety of cryobiopsy with all types of lesions, including flat mucosal lesions, is not established.Aims. Demonstrate the utility/safety of cryobiopsy versus forceps biopsy to sample exophytic and flat airway lesions.Settings and Design. Teaching hospital-based retrospective analysis.Methods. Retrospective analysis of patients undergoing cryobiopsies (singly or combined with forceps biopsies) from August 2008 through August 2010.Statistical Analysis. Wilcoxon signed-rank test.Results. The comparative analysis of 22 patients with cryobiopsy and forceps biopsy of the same lesion showed the mean volumes of material obtained with cryobiopsy were significantly larger (0.696 cm3versus 0.0373 cm3,P=0.0014). Of 31 cryobiopsies performed, one had minor bleeding. Cryopbiopsy allowed sampling of exophytic and flat lesions that were located centrally or distally. Cryobiopsies were shown to be safe, free of artifact, and provided a diagnostic yield of 96.77%.Conclusions. Cryobiopsy allows safe sampling of exophytic and flat airway lesions, with larger specimens, excellent tissue preservation and high diagnostic accuracy.


2019 ◽  
Vol 10 (03) ◽  
pp. 489-493 ◽  
Author(s):  
Sarah Hasan Siddiqui ◽  
Raheel Ahmed ◽  
Safia Awan ◽  
Ambreen Zain ◽  
Sara Khan

Abstract Background The evaluation of neuromuscular diseases includes detailed clinical assessment, blood testing, electrodiagnostic studies (EDS), biopsy, and genetic tests. EDS alone cannot provide a specific diagnosis. Further testing in the form of genetic tests or muscle biopsy (MB) is required. Objective The objective of the study is to evaluate the yield of MB in patients with findings of myopathy on electrodiagnostic testing and assess the factors affecting an abnormal biopsy outcome. Methods Electromyography (EMG)/nerve conduction studies (NCS) performed for suspected myopathy over 5 years from 2011 to 2016, at the neurophysiology department of a tertiary care center in Pakistan, were reviewed. Based on inclusion criteria, records of 58 patients were retrospectively reviewed. Results After an EMG/NCS diagnosis of myopathy, the frequency of MB testing was only 10.1%. The median age of patients was 26.5 years. The clinically suspected diagnosis was categorized into hereditary myopathy (n = 15, 25.9%) and acquired myopathy (n = 18, 31%). The positive predictive value of EMG is 77.2%. Twenty-eight (48.2%) patients had abnormal MB whereas 20 (34.4%) revealed normal findings. Factors significantly influencing an abnormal outcome of biopsy included moderate-to-severe elevation of creatine kinase (>2,000 U/L),presence of denervation changes, and severe myopathy on EMG. Conclusion Even though the overall yield of MB testing may not be very high in our setting due to the unavailability of special techniques and expertise, certain factors can help to improve the diagnostic yield. Clinicians should encourage MB testing, especially in cases with strong clinical, laboratory and electrodiagnostic suspicion, and absence of genetic testing for suspected myopathy.


2018 ◽  
Vol 88 (1) ◽  
Author(s):  
Halil Yanardag ◽  
Cuneyt Tetikkurt ◽  
Muammer Bilir

The main objective of this study was to evaluate the influence of muscle involvement on the clinical features, prognostic outcome, extrapulmonary organ, and endobronchial involvement in sarcoidosis patients. The second aim was to assess the diagnostic yield of muscle biopsy for the histopathologic identification of sarcoidosis.  Fifty sarcoidosis patients participated in the study. The patients were classified into two groups according to the histopathologic presence of non-caseating granulomatous inflammatory pattern of the muscle biopsy samples and were evaluated retrospectively in regard to clinical features, prognosis, extrapulmonary, and endobronchial disease involvement. Pathologic examination of the muscle biopsy samples revealed non-caseating granulomas in eighteen and myositis in seven patients compatible with sarcoidosis. The diagnostic yield of muscle biopsy for demonstrating non-caseating granulomatous inflammation was fifty percent. Patients with muscle sarcoidosis showed a worse prognosis and a more severe extrapulmonary organ involvement than the patients without muscle disease. Muscle biopsy was not statistically significant to delineate diffuse endobronchial involvement while it was suggestive for endobronchial disease clinically. The results of our study reveal that muscle biopsy appears to be a useful diagnostic tool along with its safety and easy clinical applicability. It is a rewarding utility to predict the prognostic outcome and extrapulmonary involvement in sarcoidosis patients. Positive biopsy on the other hand confirms the identification of sarcoidosis in patients with single organ involvement carrying an equivocal diagnostic clinical pattern. Muscle biopsy may be considered as the initial step for the final diagnosis of sarcoidosis in such cases.


Rheumatology ◽  
2020 ◽  
Author(s):  
Mathieu Lacou ◽  
Maxime Leroy ◽  
Nowenn Le Lan ◽  
Claire Toquet ◽  
Alexandra Espitia-Thibault ◽  
...  

Abstract Objectives This study aimed to examine the sensitivity of muscle biopsy (MB) in ANCA-associated vasculitis (AAV), identify factors predicting MB positivity and assess the prognostic value of a positive MB. Methods We conducted a single-centre retrospective study of AAV with an MB performed at diagnosis. AAV classification [granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA)] followed the European Medicines Agency algorithm. A logistic regression model was used to identify the factors associated with MB positivity. Survival curves were generated using the Kaplan–Meier method. Results Among 276 AAV patients (1995–2018), 101 had an MB. Seventy-eight patients were included: 33 with GPA, 25 with MPA and 20 with EGPA. MB samples were positive in 45 cases (58%): 17 GPA, 16 MPA and 12 EGPA. Univariate analysis focussed on GPA and MPA, revealed that the MB yield was higher in females [22/31 (71%) vs 11/27 (41%); P = 0.02] and in anti-MPO patients [25/37 (68%) vs 6/19 (32%) for anti-PR3; P = 0.01]. By multivariate analysis, three factors predicted MB positivity: anti-MPO ANCA [odds ratio (OR) 10.67 (CI 2.09, 81.68)], female sex [OR 5.3 (CI 1.16, 32.35)] and neutrophil count [OR 1.33 (CI 1.07, 1.8)]. MB positivity had no impact on relapse, death or end-stage renal disease–free survival. Conclusions MB is a safe and efficient diagnostic tool for AAV. Predictors of MB yield include ANCA type, sex and neutrophil count. MB cannot substitute for kidney biopsy when indicated, but should be considered in other cases.


2001 ◽  
Vol 116 (3) ◽  
pp. 326-330 ◽  
Author(s):  
Sarah Rollins ◽  
Richard A. Prayson ◽  
James T. McMahon ◽  
Bruce H. Cohen

Author(s):  
Patrick B. Moloney ◽  
Stela Lefter ◽  
Aisling M. Ryan ◽  
Michael Jansen ◽  
Niamh Bermingham ◽  
...  

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