PCR-based tissue identification: the UCLH experience

2011 ◽  
Vol 64 (10) ◽  
pp. 921-923 ◽  
Author(s):  
Sepideh Amin ◽  
Alex Freeman ◽  
Rupali Arora ◽  
Tim C Diss

The need to accurately identify tissue of an individual can arise in a variety of settings including mislabelled slides or sample carryover. Reported rates of carryover range from 0.6% to 2.9% of slides depending on the methods of evaluation. Carryover becomes particularity clinically important when malignant tissue is found in an otherwise benign sample. The suspicion of malignancy causes immense psychological stress to the patient and results in additional management costs due to the additional investigations required to rule out malignancy. Proving a negative can be difficult and many cases result in lifelong follow-up for the patient. Molecular techniques such as PCR amplification of simple tandem repeat (STR) sequences can be used to identify tissue and hence its provenance. At University College London Hospital, STR PCR analysis has been used since 2003. Here the authors report their experience with regard to the clinical scenarios, the technique used and the outcomes.

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Chaloupka ◽  
J Krejci ◽  
H Poloczkova ◽  
P Hude ◽  
E Ozabalova ◽  
...  

Abstract Background The aetiology of recent-onset dilated cardiomyopathy (RODCM) includes inflammatory, genetic, toxic and metabolic causes. Delineating the role of inflammation on the genetic background could improve risk stratification. Purpose We aimed to ascertain the role of inflammation evaluated by serum CRP immunohistochemical and PCR analysis of endomyocardial biopsy (EMB) in conjunction with genetic testing in left ventricular reverse remodelling (LVRR) in 12-month follow-up. Methods 83 RODCM patients enrolled in this prospective observational study underwent 12-month echocardiographic follow up whole-exome sequencing, and EMB. Presence of cardiotropic viruses was determined by PCR analysis of the EMB samples. Inflammation was defined according to TIMIC immunohistochemical criteria as the presence of >7 CD3+ lymphocytes/mm2 and/or >14 infiltrating leukocytes (LCA+ cells/mm2). LVRR was defined as an absolute increase in LV ejection fraction > +10% and a relative decrease of LV end-diastolic diameter >−10% at 12 months. Results LVRR occurred in 28 (34%) of all cases. PCR analysis uncovered cardiotropic viruses in 55 (66%) patients, with highest prevalence of parvovirus B19 (47%). (Figure 1) EMB analysis detected inflammation in 28 (34%) cases and inflammation significantly positively predicted LVRR (P=0.019). Sequencing identified disease-related gene variants (ACMG class 3–5) in 45 (54%) patients. Carriers of non-titin gene variants showed a lowest probability of 12-month LVRR (19%) P=0.041. Combination of genetic findings and inflammation did not improve the prediction of LVRR in 12 months. (Table 1) Conclusion Both myocardial inflammation and disease-causing variants can be identified in a large proportion of RODCM cases. Prognostic value of CRP and virus detection is low. Non-titin disease-related variants carriers of are less likely to reach LVRR. In contrast, myocardial inflammation detected by EMB predicts favourable remodelling in 12 months. Figure 1 Funding Acknowledgement Type of funding source: None


2020 ◽  
pp. 014556132098457
Author(s):  
Tae Seong Eo ◽  
Jeong Hae Kie ◽  
Hyun Seung Choi ◽  
Junhui Jeong

A myopericytoma in the auricle is rare. If an auricle contains a large, firm, red-brown mass, excision should be considered because the mass may be a myopericytoma. After excision, histopathological and immunohistochemical diagnoses are essential to rule out malignancy. Long-term follow-up is required because the tumor is slow-growing.


2020 ◽  
pp. archdischild-2020-320549
Author(s):  
Fang Hu ◽  
Shuai-Jun Guo ◽  
Jian-Jun Lu ◽  
Ning-Xuan Hua ◽  
Yan-Yan Song ◽  
...  

BackgroundDiagnosis of congenital syphilis (CS) is not straightforward and can be challenging. This study aimed to evaluate the validity of an algorithm using timing of maternal antisyphilis treatment and titres of non-treponemal antibody as predictors of CS.MethodsConfirmed CS cases and those where CS was excluded were obtained from the Guangzhou Prevention of Mother-to-Child Transmission of syphilis programme between 2011 and 2019. We calculated sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) using receiver operating characteristics (ROC) in two situations: (1) receiving antisyphilis treatment or no-treatment during pregnancy and (2) initiating treatment before 28 gestational weeks (GWs), initiating after 28 GWs or receiving no treatment for syphilis seropositive women.ResultsAmong 1558 syphilis-exposed children, 39 had confirmed CS. Area under the curve, sensitivity and specificity of maternal non-treponemal titres before treatment and treatment during pregnancy were 0.80, 76.9%, 78.7% and 0.79, 69.2%, 88.7%, respectively, for children with CS. For the algorithm, ROC results showed that PPV and NPV for predicting CS were 37.3% and 96.4% (non-treponemal titres cut-off value 1:8 and no antisyphilis treatment), 9.4% and 100% (non-treponemal titres cut-off value 1:16 and treatment after 28 GWs), 4.2% and 99.5% (non-treponemal titres cut-off value 1:32 and treatment before 28 GWs), respectively.ConclusionsAn algorithm using maternal non-treponemal titres and timing of treatment during pregnancy could be an effective strategy to diagnose or rule out CS, especially when the rate of loss to follow-up is high or there are no straightforward diagnostic tools.


2016 ◽  
Vol 3 (3) ◽  
Author(s):  
Cécile Angebault ◽  
Fanny Lanternier ◽  
Frédéric Dalle ◽  
Cécile Schrimpf ◽  
Anne-Laure Roupie ◽  
...  

Abstract Background.  Early diagnosis and treatment are crucial in invasive fungal diseases (IFD). Serum (1-3)-β-d-glucan (BG) is believed to be an early IFD marker, but its diagnostic performance has been ambiguous, with insufficient data regarding sensitivity at the time of IFD diagnosis (TOD) and according to outcome. Whether its clinical utility is equivalent for all types of IFD remains unknown. Methods.  We included 143 patients with proven or probable IFD (49 invasive candidiasis, 45 invasive aspergillosis [IA], and 49 rare IFD) and analyzed serum BG (Fungitell) at TOD and during treatment. Results.  (1-3)-β-d-glucan was undetectable at TOD in 36% and 48% of patients with candidemia and IA, respectively; there was no correlation between negative BG results at TOD and patients' characteristics, localization of infection, or prior antifungal use. Nevertheless, patients with candidemia due to Candida albicans were more likely to test positive for BG at TOD (odds ratio = 25.4, P = .01) than patients infected with other Candida species. In 70% of the patients with a follow-up, BG negativation occurred in >1 month for candidemia and >3 months for IA. A slower BG decrease in patients with candidemia was associated with deep-seated localizations (P = .04). Thirty-nine percent of patients with rare IFD had undetectable BG at TOD; nonetheless, all patients with chronic subcutaneous IFD tested positive at TOD. Conclusions.  Undetectable serum BG does not rule out an early IFD, when the clinical suspicion is high. After IFD diagnostic, kinetics of serum BG are difficult to relate to clinical outcome.


1998 ◽  
Vol 83 (2) ◽  
pp. 483-490 ◽  
Author(s):  
Russell A. Powell ◽  
Andrew J. Howell

In a recent study by Ellason and Ross, patients with Dissociative Identity Disorder reported a decrease in symptoms on the Millon Clinical Multiaxial Inventory–II over a 2-yr. follow-up period. Patients judged to have achieved integration of their personalities rated themselves as more substantially improved on the Millon–II than did patients judged not to have achieved integration. Ellason and Ross suggested that this improvement reflected the influence of treatment; however, for several reasons, their findings are open to alternative interpretations. First, in the absence of proper control conditions, one cannot rule out the contribution of other factors to the over-all improvement of patients such as regression of symptoms toward the mean following the initial assessment. Second, patients' self-reported improvement was less substantial when data were reanalyzed using more appropriate statistical criteria. Third, the greater improvement observed among integrated patients relative to nonintegrated patients may reflect influences other than differential responsiveness to treatment, such as less severe pathology prior to treatment. More systematic research is needed to clarify the effect of treatment on Dissociative Identity Disorder.


ORL ◽  
2021 ◽  
pp. 1-7
Author(s):  
Sunil Dutt Sharma ◽  
Ahmad Hariri ◽  
Ravi Kumar Lingam ◽  
Arvind Singh

<b><i>Background:</i></b> Non-echoplanar diffusion-weighted MRI (DWMRI) has a role in the surgical planning for cholesteatoma. <b><i>Aims/Objectives:</i></b> The aim of the study was to assess the use of DWMRI in the management of cholesteatoma across the UK, and measure clinicians’ confidence in the use of DWMRI. <b><i>Materials and Methods:</i></b> Telephone survey in 139 Otolaryngology Departments in the United Kingdom between March 2017 and July 2017, and asking radiology delegates at the British Society of Head and Neck Imaging 2017 meeting. <b><i>Results:</i></b> The response rate was 101 out of 139 Trusts (73%). Of those respondents who did have DWMRI available, 68/88 respondents (77%) use it for cholesteatoma. The mean confidence (±standard deviation) of the respondents with DWMRI in identifying cholesteatoma presence was 7.3 ± 2.1, in identifying volume of cholesteatoma was 6.8 ± 1.8, and in identifying subsites of cholesteatoma was 4.6 ± 2.1. <b><i>Conclusions and Significance:</i></b> DWMRI has a well-defined role in the follow-up of patients after cholesteatoma surgery, and those primary cases of cholesteatoma where the diagnosis is in question. The use of DWMRI for cholesteatoma is variable across the UK, but there are certain clinical scenarios where there is not enough awareness regarding the benefits of imaging (such as petrous apex cases of cholesteatoma).


2017 ◽  
Vol 28 (14) ◽  
pp. 1366-1379 ◽  
Author(s):  
Rajul Patel ◽  
Oliver J Kennedy ◽  
Emily Clarke ◽  
Anna Geretti ◽  
Arvid Nilsen ◽  
...  

Genital herpes is one of the commonest sexually transmitted infections worldwide. Using the best available evidence, this guideline recommends strategies for diagnosis, management, and follow-up of the condition as well as for minimising transmission. Early recognition and initiation of therapy is key and may reduce the duration of illness or avoid hospitalisation with complications, including urinary retention, meningism, or severe systemic illness. The guideline covers a range of common clinical scenarios, such as recurrent genital herpes, infection during pregnancy, and co-infection with human immunodeficiency virus.


2012 ◽  
Vol 49 (2) ◽  
pp. 67-70 ◽  
Author(s):  
M. Kolesárová ◽  
R. Herich ◽  
M. Levkut ◽  
J. Čurlík ◽  
M. Levkut

AbstractPCR amplification of specific DNA regions is a powerful tool for retrospective studies, but not all preservation or fixation methods render DNA that is suitable for subsequent amplification. Several factors affect sensitivity of polymerase chain reaction (PCR) amplification. There were reported the effects of commonly used fixation solutions — 10 % neutral buffered formalin, 20 % neutral buffered formalin and Carnoy’s solution and the efficiency of PCR amplification in fresh tissue and paraffin (or wax) embedded samples of Cysticercus ovis. DNA from samples was isolated and PCR product of 1300 bp was amplified. Results indicated that the samples fixed in Carnoy’s solution produced reliable amplification of desired fragments. The samples that were fixed in 10 % and 20 % neutral buffered formalin brought negative results.


2020 ◽  
Vol 26 (3) ◽  
pp. 33
Author(s):  
Thibault Casatuto ◽  
Gauthier Benat ◽  
Sara Laurencin-Dalicieux ◽  
Sarah Cousty

Subcutaneous emphysema is a rare feature caused by traumatism (weapons, accidents: crashes, barotrauma, …), dental care and infections. A 48-year-old woman consults for a right oral mucosa lesion and benefits from a biopsy for anatomopathological diagnosis. Within hours of the biopsy, bilateral jugal then cervical swelling has occured without signs of severity. The examination at 48 hours and the CT scan showed a bilateral cervicofacial emphysema with a spontaneous favorable resolution in a few days making the diagnosis of benign subcutaneous emphysema (BSCE). BSE can occurs after an endobuccal biopsy, a close follow up is necessary to rule out gas gangrene.The resolution is spontaneous with the necessity to reassure the patient.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
R M J Van Der Velden ◽  
D V M Verhaert ◽  
A N L Hermans ◽  
M Gawalko ◽  
D Duncker ◽  
...  

Abstract Introduction During the coronavirus disease 2019 (COVID-19) pandemic, numerous centres in Europe used on-demand photoplethysmography (PPG) technology to remotely assess heart rate and rhythm in conjunction with teleconsultations within the TeleCheck-AF project. Purpose To develop an educational structured stepwise practical guide on how to interpret PPG signals and to study typical clinical scenarios how on-demand PPG was used in the TeleCheck-AF project. Methods During an online conference, the structured stepwise practical guide on how to interpret PPG signals was discussed and further refined during an internal review process. We provide the number of respective PPG recordings and number of patients managed within a clinical scenario during the TeleCheck-AF project. Results To interpret PPG recordings, we introduce a structured stepwise practical guide and provide representative PPG recordings. In the TeleCheck-AF project, 2522 subjects collected 90.616 recordings. The majority of these recordings was classified by the PPG algorithm as sinus rhythm (57.6%), followed by atrial fibrillation (AF) (23.6%). In 9.7% of recordings the quality was too low to interpret. Other observed rhythms were tachycardia (1.4%), extra systoles (4.7%), bigeminy episodes (1.8%), trigeminy episodes (0.6%) and atrial flutter (0.2%). The most frequent clinical scenario where PPG technology was used in the TeleCheck-AF project was follow-up after AF ablation (1110 patients) followed by heart rate and rhythm assessment around (tele)consultation (966 patients), sometimes including remote PPG-guided adaption of rate or rhythm control. 275 patients were followed around cardioversion, either (semi-)acute or elective. Other possible scenarios are assessment of palpitations, assessment of symptom-rhythm correlation and monitoring during up-titration of heart failure medication. Conclusion We introduce a newly developed structured stepwise practical guide on PPG signal interpretation developed based on presented experiences from TeleCheck-AF. The present clinical scenarios for the use of on-demand PPG technology derived from the TeleCheck-AF project will help to implement PPG technology in the management of arrhythmia patients. FUNDunding Acknowledgement Type of funding sources: None. TeleCheck-AF clinical scenarios Classification of PPG recordings


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