Diagnostic Value of Dystrophin Immunostaining in the Diagnosis of Duchenne and Becker Muscular Dystrophy Patients

Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive muscular disorders caused by the absence or reduction of the muscle cytoskeletal protein dystrophin. Standard procedures to detect deletion and duplication of the DMD gene use Multiplex Ligation-Dependent Probe Amplification (MLPA). However, genetic testing, such as MLPA, is not covered by the national insurance scheme in Indonesia. Immunohistochemical (IHC) staining of dystrophin from muscle biopsy in the form of Formalin-Fixed Paraffin-Embedded (FFPE) specimens can be an alternative method to detect dystrophin expression in protein levels to establish the diagnosis of DMD or BMD. Objectives: To determinate sensitivity, specificity and accuracy of IHC analysis of dystrophin in DMD/BMD patient in comparison with the standard genetic testing, MLPA. Methods: Twenty-six patients enrolled in this study were clinically diagnosed as DMD/BMD in Dr. Sardjito Hospital and Universitas Gadjah Mada Academic Hospital. Genomic DNA was isolated from 3 mL of EDTA-peripheral whole blood samples. The deletion and duplication of DMD genes were detected by MLPA. IHC examination was performed using a specific antibody dystrophin (DYS2). Complete loss of dystrophin staining indicated DMD, while partial loss of dystrophin staining indicated BMD. MLPA result was used as the gold standard to determine sensitivity, specificity, and accuracy of IHC technique using a 2x2 table. Results: MLPA results revealed 18 (18/26; 69.3%) patients with deletion and 3 (3/26; 11.5%) patients with duplication. Five (5/26; 19.2%) patients who showed no deletion nor duplication were excluded from the analysis. Among 21 patients with deletion or duplication, 18 (18/21; 85.7%) patients were out-of-frame (DMD) and 3 (3/21; 14.3%) patients were in-frame (BMD). Six patients showed a discrepancy between the IHC and MLPA results with 9.5% (2/21) false positive and 19% (4/21) false negative. The sensitivity of dystrophin IHC was 77.78%, specificity 33.33%, positive predictive value 87.5%, negative predictive value 20%, and accuracy 71.43%. Conclusion: Muscle biopsy followed by IHC can be one of the diagnostic tools to diagnose BMD or DMD, with high sensitivity. The protein-based strategy is probably the most efficient way to approach the diagnosis of Duchenne and Becker muscular dystrophy in limited health care settings.

Download Full-text

Missed Abstracts

10.1055/s-0039-1685395 ◽

2016 ◽

Keyword(s):

Ct Scan ◽

Negative Predictive Value ◽

Predictive Value ◽

False Negative ◽

High Sensitivity ◽

Carcinoma Cervix ◽

Figo Staging ◽

Guided Biopsy ◽

Pre Treatment ◽

Sensitivity Specificity

Aim: To compare the findings of CT scan pelvis and cystoscopy findings of bladder involvement in carcinoma cervix in VIEW of revised FIGO staging and to demonstrate the accuracy of CT scan for pretreatment diagnosis of bladder involvement. Methods: A prospective and comparative study was conducted in the department of Obstetrics and Gynaecology, Rajindra hospital Patiala on a number of 100 patients of carcinoma cervix who underwent both cystoscopy and CT scan pelvis to ascertain bladder involvement. Cystoscopy guided biopsy proven cases of bladder involvement were taken as true cases of bladder involvement in the study and the results of both modalities were analysed and compared. Results: Out of 100 patients of carcinoma cervix, 28 patients showed bladder involvement on CT scan pelvis and 6 patients were proven as positive cases on cystoscopic guided bladder biopsy. The true positives in the study were 6 cases. True negatives were 94 cases. 22 patients were false positive on CT scan findings and there were no false negative patients for bladder involvement on CT scan pelvis findings in the study. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of CT scan pelvis for bladder involvement were 100%, 76.60%, 21.43%, 100% and 78% respectively. CT scan pelvis was able to detect all cases of bladder involvement which came positive cystoscopy guided biopsy as well. Conclusions: With the revised FIGO staging which has given optional status to both CT scan and cystoscopy for bladder involvement in patients of carcinoma cervix, CT scan can be used as the preliminary modality for detective bladder involvement in patients of carcinoma cervix. The high sensitivity and negative predictive value of CT scan helps choose which patients should undergo cystoscopy and helps in better and more efficient pre-treatment evaluation of patients with carcinoma cervix for bladder involvement.

Download Full-text

68-Ga-PSMA-PET in the diagnosis of local recurrent disease after radiotherapy in patients with prostate cancer.

Journal of Clinical Oncology ◽

10.1200/jco.2018.36.6_suppl.213 ◽

2018 ◽

Vol 36 (6_suppl) ◽

pp. 213-213

Author(s):

David Pfister ◽

Matthias Schmidt ◽

Tobias Kohl ◽

Daniel Porres-Knoblauch ◽

Axel Heidenreich

Keyword(s):

Prostate Cancer ◽

Local Recurrence ◽

Predictive Value ◽

Preoperative Staging ◽

Cancer Recurrence ◽

Diagnostic Value ◽

Diagnostic Tools ◽

Extended Lymph Node Dissection ◽

Psma Pet ◽

Sensitivity Specificity

213 Background: For planning salvage procedures in recurrent prostate cancer accurate diagnostic tools are needed. Till now in patients suspicious for isolated local recurrent cancer invasive biopsy was needed. 68-Ga-PSMA-PET is frequently used to identify even small metastatic deposits. We analyzed the diagnostic value to identify local recurrence in patients after radiotherapy undergoing salvage radical prostatectomy, sRPE. Methods: We retrospectively reviewed patients undergoing sRPE with 68-Ga-PSMA-PET as preoperative staging. All patients underwent sRPE and extended lymph node dissection. Sensitivity, Specificity, pos and neg predictive value had been calculated per patient and per prostate lobe. Results: 37 patients with preoperative 68-Ga-PSMA-PEt could be identified. In all but one at least in one lobe PSMA staining could be identified. Mean tumor volume per prostate lobe was 6.22 (0.1-24)ml. Sensitivity, Specificity, neg and pos predictive value per lobe is 80%, 75%, 32% and 96%. Sensitivity to identify cancer recurrence per person irrespective of the side is 95% with a pos predictive value of 100%. Conclusions: 68-Ga-PSMA-PET seems to have a very high diagnistic value to identify local recurrence after radiotherapy. After validation of our experience an invasive biopsy to proof cancer recurrence might be spared.

Download Full-text

An Evaluation of the Arcus Corneae For Age Estimation

Academic Forensic Pathology ◽

10.1177/1925362119891708 ◽

2019 ◽

Vol 9 (3-4) ◽

pp. 155-162

Author(s):

Boonsak Hanterdsith

Keyword(s):

Predictive Value ◽

Interobserver Reliability ◽

High Sensitivity ◽

Diagnostic Value ◽

Cross Sectional Study ◽

Likelihood Ratios ◽

Chi Square ◽

Cross Sectional ◽

Predictive Values ◽

Sensitivity Specificity

Although the arcus corneae (AC) has long been used as an age indicator for forensic purposes, its diagnostic value has not been evaluated. To evaluate the AC as a predictor of chronological age, the author has studied the correlation of AC with respect to age of the deceased. A cross-sectional study was conducted of 342 Thai corpses at the Maharat Nakhon Ratchasima Hospital, Thailand. AC was graded into three levels: no AC, incomplete ring, and complete ring. One-way analysis of variance, chi-square test, binomial logistic regression, sensitivity, specificity, predictive values, and likelihood ratios were used for analysis. The Cohen’s kappa was used to determine the intraobserver and interobserver reliability. The prevalence of AC and the probability of complete AC were significant higher in corpses aged 60 years and above than in those under 60 years. Consequently, this study confirmed that the prevalence of AC was significantly correlated with the age of Thai individuals. If the complete AC is used as an indicator of age of 60 years and above, complete AC has high sensitivity (92.56%) but low specificity (72.85%), low positive predictive value (65.12%), but high negative predictive value (94.71%). For diagnostic value, the presence of AC can be used for age screening but not for absolute confirmation. The absence of AC indicates young age, incomplete AC indicates middle age, and complete AC indicates old age. The high intraobserver and interobserver reliability provides assurance of the value of AC as a means to estimate personal age.

Download Full-text

273. Low Positive Predictive Value of β-d-Glucan in Hematology Patients Receiving Antimold Prophylaxis

Open Forum Infectious Diseases ◽

10.1093/ofid/ofz360.348 ◽

2019 ◽

Vol 6 (Supplement_2) ◽

pp. S150-S151

Author(s):

Eui Jin Chang ◽

Kang Il Jun ◽

Song Mi Moon ◽

Wan Beom Park ◽

Ji Hwan Bang ◽

...

Keyword(s):

Positive Predictive Value ◽

Predictive Value ◽

False Negative ◽

Diagnostic Value ◽

Tertiary Hospital ◽

Diagnostic Purpose ◽

True Negative ◽

Graft Vs Host Disease ◽

Sensitivity Specificity ◽

Low Prevalence

Abstract Background Detection of β-D-glucan (BDG) in serum is recognized as the mycological evidence in the diagnosis of invasive fungal infection (IFI). However, its diagnostic value in low prevalence of IFI has not been elucidated. We aimed to examine the performance of BDG in hematology patients receiving antimold prophylaxis. Methods We retrospectively reviewed all BDG results performed for the purpose of diagnosis or surveillance for IFI in hematology patients receiving posaconazole or micafungin prophylaxis from January 2017 to February 2019 in a tertiary hospital. At least two consecutive positive results of BDG were regarded as positive BDG. All the episodes were classified into true-positive (TP, positive BDG with probable/proven IFI), true-negative (TN, negative BDG without probable/proven IFI), false-positive (FP, positive BDG without probable/proven IFI), false-negative (FN, negative BDG with probable/proven IFI), and nonevaluable (could not be determined for the occurrence of breakthrough IFI). When BDG test was performed in the setting of persistent fever ≥72 hours in spite of broad-spectrum antibiotics or with a suspicion of IFI, it was defined as a diagnostic BDG episode, while others were defined as a surveillance BDG episode. Results Of a total of 140 episodes, 24 episodes were non-evaluable. Among 116 evaluable episodes, 75 received induction chemotherapy for acute leukemia or myelodysplastic syndrome, 35 underwent stem cell transplantation, and 10 had intensive treatment for graft-vs.-host disease. There were three episodes of probable/proven IFI (2.6%). Ninety-one (78.4%) were performed with diagnostic purpose, while 25 (21.6%) were performed for surveillance. TP, TN, FP, and FN were 2 (1.7%), 91, 22, and 1, respectively. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value were 66.7%, 80.5%, 8.3% and 98.9%, respectively. PPV was 13.3% and 0% in diagnostic and surveillance BDG episodes, respectively. Conclusion The PPV of BDG was low in hematology patients receiving antimold prophylaxis, even in the diagnostic-driven episodes. The routine screening of BDG is not helpful, and the BDG test may be used for exclusion of IFI rather than for diagnosis in these patients. Disclosures All authors: No reported disclosures.

Download Full-text

Diagnostic value of self-report compared with Beck Depression Inventory (BDI-II) in screening of depression

10.1101/2020.04.29.20085852 ◽

2020 ◽

Author(s):

Mehran zarghami ◽

Fatemeh Taghizadeh ◽

Mahmood mousazadeh

Keyword(s):

Positive Predictive Value ◽

Beck Depression Inventory ◽

Predictive Value ◽

Total Population ◽

False Negative ◽

Diagnostic Value ◽

Self Report ◽

Case Group ◽

Predictive Values ◽

Sensitivity Specificity

AbstractBackgroundDepression is a common cause of mortality and morbidity worldwide. To detect depression, we compared Beck Depression Inventory scoring as a valid tool with participants self-reporting depression.MethodologyThis cross-sectional study aimed to explore the diagnostic values of self-reporting in patients’ with depression comparing to Beck Depression Inventory scoring in Mazandaran Persian cohort study, with a total of 1300 samples. The sample size was determined to include 155 participants through the census method. In order to increase the test power, 310 healthy participants were included in the study through random selection. In order to evaluate the diagnostic value of self-reporting, BDI-II was completed by blind interviewing to the case group as well as to another group who reported that they were not depressed, as control.ResultsSensitivity, specificity, accuracy, false positive, false negative, positive and negative predictive values of self-reporting was calculated 58.4%, 79.1%,73.4%, 20.8%, 41.6%, 51.8%, and 83.2% for the total population respectively, as well as, sensitivity, specificity, accuracy, positive and negative predictive values of self-report in males were 83.3%, 77.2%, 77.1%, 43.8% and 95.6% and 53.7%, 78.1%, 71.2%, 49.2%, and 81.1% for females, respectively.ConclusionThe positive predictive value and sensitivity of self-reporting are insufficient in total population and females, and therefore self-reporting cannot detect depressed patients, but regarding to its average positive predictive value, perhaps, it can be used to identify non-depressant individuals.

Download Full-text

Ultrasound Supplemented by Sialendoscopy: Diagnostic Value in Sialolithiasis

Otolaryngology ◽

10.1177/0194599818775946 ◽

2018 ◽

Vol 159 (3) ◽

pp. 449-455 ◽

Cited By ~ 10

Author(s):

Miguel Goncalves ◽

Konstantinos Mantsopoulos ◽

Mirco Schapher ◽

Heinrich Iro ◽

Michael Koch

Keyword(s):

Predictive Value ◽

Correct Diagnosis ◽

False Negative ◽

Diagnostic Value ◽

Definitive Evidence ◽

Extracorporeal Shock Wave ◽

Direct Demonstration ◽

Negative Findings ◽

Degree Of Certainty ◽

Sensitivity Specificity

Objective To assess the value of ultrasound, if indicated, supplemented by sialendoscopy, in the diagnosis of sialolithiasis. Study Design Retrospective study. Setting Referring center for salivary gland diseases. Subjects and Methods All patients who presented with a suspected diagnosis of obstructive sialopathy between January 2011 and April 2017 and had not undergone any treatment were retrospectively evaluated. A total of 2052 patients and 2277 glands were included in the study. Ultrasound examinations were carried out initially and followed by sialendoscopy in all cases. Direct demonstration of sialothiasis by sialendoscopy, transoral ductal surgery, and discharge of concrements/observation of fragments during sialendoscopy after extracorporeal shock-wave lithotripsy were regarded as definitive evidence of sialolithiasis. Results Ultrasound had an accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of 94.77%, 94.91%, 94.57%, 96.14%, and 92.89%, respectively, for the diagnosis of sialolithiasis. All false-positive findings were correctly diagnosed, and in all false-negative findings, stones/fragments were visualized by sialendoscopy. Over 95% of the false-negative findings in major salivary glands (64/67) had visible ductal dilation in sonography, and in 73.1%, the stones not detected on ultrasound were located in the distal part of the duct, which is easily accessible with the sialendoscope. Conclusion This study shows that sialolithiasis can be diagnosed using ultrasonography with a high degree of certainty. If supplemented by sialendoscopy, the correct diagnosis could be established in virtually all cases of sialolithiasis. Ultrasound supplemented by sialendoscopy has the potential to serve as an alternative diagnostic standard in the future.

Download Full-text

Diagnostic accuracy of spleen stiffness to evaluate portal hypertension and esophageal varices in chronic liver disease: a systematic review and meta-analysis

European Radiology ◽

10.1007/s00330-020-07223-8 ◽

2020 ◽

Author(s):

Xing Hu ◽

Xiaojie Huang ◽

Jianhua Hou ◽

Lei Ding ◽

Chunling Su ◽

...

Keyword(s):

Portal Hypertension ◽

Diagnostic Accuracy ◽

Esophageal Varices ◽

Predictive Value ◽

Meta Analysis ◽

High Sensitivity ◽

Diagnostic Value ◽

Chronic Liver ◽

Spleen Stiffness ◽

Sensitivity Specificity

Abstract Objectives To systematically review studies on the diagnostic accuracy of spleen stiffness measurement (SSM) for the detection of clinical significant portal hypertension (CSPH), severe portal hypertension (SPH), esophageal varices (EV), and high-risk esophageal varices (HREV) in patients with chronic liver diseases (CLD). Methods Through a systematic search, we identified 32 studies reporting the accuracy of SSM for the diagnosis of portal hypertension (PH) and/or EV in adults with CLD. A bivariate random-effects model was performed to estimate pooled sensitivity, specificity, likelihood ratio, positive predictive value (PPV), negative predictive value (NPV), and diagnostic odds ratios (DOR). The clinical utility of SSM was evaluated by Fagan plot. Results A total of 32 studies assessing 3952 patients were included in this meta-analysis. The pooled sensitivities of SSM were 0.85 (95% confidence interval (CI), 0.69–0.93) for CSPH; 0.84 (95% CI, 0.75–0.90) for SPH; 0.90 (95% CI, 0.83–0.94) for any EV; and 0.87 (95% CI, 0.77–0.93) for HREV. The pooled specificities of SSM were 0.86 (95% CI, 0.74–0.93) for CSPH; 0.84 (95% CI, 0.72–0.91) for SPH; 0.73 (95% CI, 0.66–0.79) for EV; and 0.66 (95% CI, 0.53–0.77) for HREV. Summary PPV and NPV of SSM for detecting HREV were 0.54 (95% CI, 0.47–0.62) and 0.88 (95% CI, 0.81–0.95), respectively. Conclusions Our meta-analysis suggests that SSM could be used as a helpful surveillance tool in management of CLD patients and was quite useful for ruling out the presence of HREV thereby avoiding unnecessary endoscopy. Key Points • SSM could be used to rule out the presence of HREV in patients with CLD thereby avoiding unnecessary endoscopy. • SSM has significant diagnostic value for CSPH and SPH with high sensitivity and specificity in patients with CLD. • SSM could be used as a helpful surveillance tool for clinicians managing CLD patients.

Download Full-text

Comparison between cystoscopy and CT scan findings of bladder involvement in carcinoma cervix in view of revised FIGO staging

10.1055/s-0039-1685269 ◽

2016 ◽

Keyword(s):

Ct Scan ◽

Negative Predictive Value ◽

Predictive Value ◽

False Negative ◽

High Sensitivity ◽

Carcinoma Cervix ◽

Figo Staging ◽

Guided Biopsy ◽

Pre Treatment ◽

Sensitivity Specificity

Download Full-text

Limited Positive Predictive Value of β-d-Glucan in Hematologic Patients Receiving Antimold Prophylaxis

Open Forum Infectious Diseases ◽

10.1093/ofid/ofaa048 ◽

2020 ◽

Vol 7 (3) ◽

Author(s):

Euijin Chang ◽

Taek Soo Kim ◽

Chang Kyung Kang ◽

Kang Il Jun ◽

Dongyeop Shin ◽

...

Keyword(s):

Positive Predictive Value ◽

Predictive Value ◽

False Negative ◽

Diagnostic Value ◽

Tertiary Hospital ◽

True Positive ◽

True Negative ◽

Cell Transplants ◽

Sensitivity Specificity ◽

Low Prevalence

Abstract Background Diagnostic value of β-d-glucan (BDG) in populations with low prevalence of invasive fungal infection (IFI), such as hematologic patients receiving antimold prophylaxis, should be re-evaluated. Methods We retrospectively reviewed episodes with BDG results in hematologic patients receiving antimold prophylaxis from January 2017 to August 2019 in a tertiary hospital. The episodes were classified as true positive ([TP] positive BDG with IFI), true negative ([TN] negative BDG without IFI), false positive ([FP] positive BDG without IFI), false negative ([FN] negative BDG with IFI), and nonevaluable. Results A total of 203 episodes were analyzed: 101 episodes (49.8%) were from stem cell transplants, 89 (43.8%) were from induction chemotherapy, and 13 (6.4%) were from graft-versus-host disease treatment. There were 62 nonevaluable episodes. Among 141 evaluable ones, there were 8 (5.7%) episodes of probable/proven IFI. True positive, TN, FP, and FN cases were 4 (2.8%), 112 (79.4%), 21 (14.9%), and 4 (2.8%) episodes, respectively. Sensitivity, specificity, positive predictive value, and negative predictive value were 50.0%, 84.2%, 16.1%, and 96.5%, respectively. Positive predictive value was 26.7% and 0.0% in diagnostic and surveillance episodes, respectively. Conclusions β-d-glucan test should be used to exclude IFI rather than for diagnosis in these patients.

Download Full-text

Evaluation of HSG and SIS Diagnostic Value in Comparison to Hysteroscopy to Detect Intrauterine Abnormalities in Infertile Women in Iran

Austin Journal of Surgery ◽

10.26420/austinjsurg.2021.1272 ◽

2021 ◽

Vol 8 (3) ◽

Author(s):

Nazari L ◽

◽

Boroujeni PT ◽

Keyword(s):

Sensitivity And Specificity ◽

Predictive Value ◽

Gold Standard ◽

Uterine Cavity ◽

High Sensitivity ◽

Diagnostic Odds Ratio ◽

Diagnostic Value ◽

Infertile Women ◽

Intrauterine Abnormalities ◽

Sensitivity Specificity

Objective: Hysteroscopy is the gold standard in evaluation of uterine cavity. However, being invasive and its possible adverse effects have reduced popularity of hysteroscopy and clinicians have always been looking for a valid alternative for hysteroscopy. In the current study, we aimed to compare diagnostic value of Saline induced Sonography with HSG in diagnosis of intrauterine abnormalities. Material and Method: We performed a retrospective study on 81 infertile women who underwent hysteroscopy, SIS, and HSG at Taleghani infertility center during their IVF treatment course. Polyp, fibroids, adhesion and septate uterus were considered as abnormality. We reported agreement percent, Kappa, sensitivity, specificity, Area Under Curve, Diagnostic Odds Ratio, Positive Predictive Value, and Negative Predictive value for both SIS and HSG. Results: Total agreement between SIS and hysteroscopy was 85.1, while it was 23.4 for HSG. We also observed considerably higher Kappa for SIS (80.1%) than HSG (15.5%). Overall sensitivity and specificity of SIS for diagnosis of all type of anomaly including both uterine abnormalities and Acquired uterine pathologies was 90.1% (95% CI= 80.7, 95.9) and 90.0% (95% CI= 55.5, 99.7). Meanwhile overall sensitivity and specificity of Hysterosalpingography where hysteroscopy was considered as the gold standard was 54.9 (42.7, 66.8) and 50.0 (18.7, 81.3). Conclusion: SIS is more sensitive tools than HSG for diagnosis of intrauterine abnormalities and could be considered one of the best alternative of hysteroscopy. It provides more accurate detail diagnostic information with high sensitivity and specificity.

Download Full-text