Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

2016 ◽  
Vol 22 (4) ◽  
pp. 615-624 ◽  
Author(s):  
S Anazi ◽  
S Maddirevula ◽  
E Faqeih ◽  
H Alsedairy ◽  
F Alzahrani ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Diagnostic Yield ◽  
Clinical Genomics ◽  
High Diagnostic Yield

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

2016 ◽  
Vol 54 (2) ◽  
pp. 87-92 ◽  
Author(s):  
Francisco Martínez ◽  
Alfonso Caro-Llopis ◽  
Mónica Roselló ◽  
Silvestre Oltra ◽  
Sonia Mayo ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Next Generation Sequencing ◽  
Diagnostic Yield ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
High Diagnostic Yield ◽  
Generation Sequencing

scholarly journals Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

2020 ◽  
Vol 8 (10) ◽  
Author(s):  
Aniko Sabo ◽  
David Murdock ◽  
Shannon Dugan ◽  
Qingchang Meng ◽  
Marie‐Claude Gingras ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Diagnostic Yield ◽  
Community Based ◽  
High Diagnostic Yield

scholarly journals Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study

2021 ◽  
Author(s):  
Yu Sun ◽  
Jing Peng ◽  
Desheng Liang ◽  
Xiantao Ye ◽  
Na Xu ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Genome Sequencing ◽  
Clinical Utility ◽  
Diagnostic Yield ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Chromosomal Microarray Analysis ◽  
High Diagnostic Yield ◽  
Wide Range

Genome sequencing(GS) has been applied in the diagnosis of global developmental delay(GDD)/intellectual disability(ID). However, the performance in those with inconclusive results from chromosomal microarray analysis(CMA) and exome sequencing(ES) is unknown. We recruited 100 pediatric GDD/ID patients from multiple sites in China from February 2018 to August 2020 for GS. Patients have received at least one genomic diagnostic test prior to enrollment. Reanalysis of CMA/ES data was performed. The yield of GS was calculated and explanations for missed diagnoses by CMA/ES were investigated. Clinical utility was assessed by interviewing the parents by phone. The overall diagnostic yield of GS was 23%. Seven families could have been solved with reanalysis of ES data. 13 families were missed by previous CMA/ES due to improper method. Three remained unsolved after ES reanalysis due to allele dropout, complex variants missed by ES, and a CNV in untranslated regions. Follow-up of the diagnosed families revealed that nine families experienced changes in clinical management, including identification of targeted treatments, cessation of unnecessary treatment, and considerations for family planning. GS demonstrated high diagnostic yield and clinical utility in this cohort of undiagnosed GDD/ID patients, detecting a wide range of variant types of different sizes in a single workflow.

scholarly journals High diagnostic yield of splenic core biopsy in patients with pyrexia of unknown origin

2021 ◽  
Author(s):  
Yee Ting Nicole Yim ◽  
Gabriel Wallis ◽  
Jawad Saeed ◽  
Stefan Voo ◽  
Irfan Kayani ◽  
...  
Keyword(s):  
Core Biopsy ◽  
Diagnostic Yield ◽  
Unknown Origin ◽  
Pyrexia Of Unknown Origin ◽  
High Diagnostic Yield

Conventional Transbronchial Needle Aspiration (cTBNA) and EBUS-Guided Transbronchial Needle Aspiration (EBUS-TBNA): A Retrospective Study on the Comparison of the Two Methods for Diagnostic Adequacy in Molecular Analysis

2021 ◽  
Vol 2 (4) ◽  
pp. 296-305
Author(s):  
Francesca Signorini ◽  
Martina Panozzi ◽  
Agnese Proietti ◽  
Greta Alì ◽  
Olivia Fanucchi ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Lymph Nodes ◽  
Molecular Analysis ◽  
Diagnostic Yield ◽  
Needle Aspiration ◽  
Diagnostic Methods ◽  
Neoplastic Cells ◽  
Transbronchial Needle Aspiration ◽  
Average Percentage ◽  
High Diagnostic Yield

Introduction: In recent years, there has been a growing development of molecularly targeted therapies for various types of solid tumors—in particular, in non-small-cell lung cancer (NSCLC). This has required the need for greater quantities of tissue that is able to support ancillary studies, alongside cyto-histological diagnoses for the assessment of molecular targets. Conventional TBNA (cTBNA) and EBUS-guided TBNA (EBUS-TBNA) have shown a high diagnostic yield for malignant mediastinal and/or hilar lymph node enlargement and peribronchial masses; however, few studies have compared these two procedures. We retrospectively compared TBNA patients (EBUS-TBNA and cTBNA) in order to determine the diagnostic yield and material adequacy for subsequent ancillary analyses. Materials and Methods: We retrospectively evaluated 318 patients with clinical suspicion of lung cancer or with disease recurrence. All of the patients underwent TBNA (either EBUS-TBNA or cTBNA) on enlarged mediastinal and/or hilar lymph nodes and peribronchial masses between January 2017 and June 2021 at the University Hospital of Pisa, Italy. After a definitive diagnosis, molecular analyses and an evaluation of PD-L1 expression were performed in the cases of adenocarcinoma, squamous cell carcinoma, and NSCLC, not otherwise specified (NOS). Results: EBUS-TBNA was performed in 199 patients and cTBNA was performed in 119 patients with 374 and 142 lymph nodes, respectively. The overall diagnostic yield for positive diagnoses was 59% (diagnostic rate of 61% in EBUS-TBNA, and 55% in cTBNA). Adenocarcinoma (ADC) was the most frequent diagnosis in both methods. EBUS-TBNA diagnostic adequacy was 72% for molecular analysis, while it was 55.5% for cTBNA, showing a statistical trend (p = 0.08) towards the significance of EBUS. The average percentage of neoplastic cells was also statistically different between the two methods (p = 0.05), reaching 51.19 ± 22.14 in EBUS-TBNA and 45.25 ± 22.84 in cTBNA. With regard to the PD-L1 protein expression, the percentage of positivity was similar in both procedures (86% in EBUS-TBNA, 85% in cTBNA). Conclusions: Conventional TBNA (cTBNA) and EBUS-guided TBNA (EBUS-TBNA) are minimally invasive diagnostic methods that are associated with a high diagnostic yield. However, EBUS-TBNA has an improved diagnostic adequacy for molecular analysis compared to cTBNA, and is associated with a higher average percentage of neoplastic cells.

scholarly journals Efficacy of OPD based rigid sigmoidoscopy in diagnosing the patients with bleeding per rectum

2018 ◽  
Vol 6 (1) ◽  
pp. 261
Author(s):  
Hardik Parmar ◽  
Arun R. ◽  
Sahdevsinh Chauhan ◽  
Akshay Sutaria
Keyword(s):  
Clinical Examination ◽  
Diagnostic Yield ◽  
Outpatient Department ◽  
Sigmoidoscopic Examination ◽  
High Diagnostic Yield ◽  
Routine Blood ◽  
Bleeding Per Rectum ◽  
Very High

Background: The aim of study was to evaluate the patients with bleeding per rectum by rigid sigmoidoscopy and to know the various causes of bleeding per rectum in our OPD population and to select the best approach to treat the underlying pathology.Methods: A total 63 patients with bleeding per rectum in whom cause could not be ascertained by routine methods like proctoscopy were considered from outpatient department form January 2017 to June 2018 for the study. Out of 63 patients, rigid sigmoidoscopy done in 31 patients and results were documented. All 31 patients were undergone for complete clinical examination and rigid sigmoidoscopic examination in the surgical OPD and routine blood, urine and stool investigations were also done.Results: Out of 31 cases in which sigmoidoscopic examination has been done, definitive source of bleeding is identified in 22 cases (70.97%) and in 9 cases (29.03%), the source of bleeding could not be detected by rigid sigmoidoscope.Conclusions: Rigid sigmoidoscopy has a very high diagnostic yield (approximately 71% in this study) in patients with bleeding per rectum which could not be detected by routine ano proctoscopy. Hence rigid sigmoidoscopy would be recommended in the workup of patients presenting with bleeding per rectum and it also serves an equally important function in excluding serious colonic lesions like malignancy and enables us to reassure the patient.

Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years

2019 ◽  
Vol 84 (1) ◽  
pp. 11-28 ◽  
Author(s):  
Leila Cohen ◽  
Analisa Manín ◽  
Nancy Medina ◽  
Sergio Rodríguez‐Quiroga ◽  
Dolores González‐Morón ◽  
...  
Keyword(s):  
Diagnostic Yield ◽  
Clinical Genomics

scholarly journals Clinical Experience with Frameless Neuronavigation Guided Biopsy for Intracranial Space Occupying Lesion

2019 ◽  
Vol 16 (1) ◽  
pp. 25-28
Author(s):  
Suraj Thulung ◽  
Suresh Bishokarma ◽  
Subash Lohani ◽  
Dinuj Shrestha ◽  
Binit Aryal ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Neurological Deficit ◽  
Complication Rate ◽  
Diagnostic Yield ◽  
P Value ◽  
Tumor Diameter ◽  
High Diagnostic Yield ◽  
Guided Biopsy ◽  
Supratentorial Tumors ◽  
Space Occupying Lesion

Biopsy is mandatory for histological diagnosis of non-resectable brain tumors. Of various techniques, neuronavigation guided biopsy provides intraoperative real-time reference and allows biopsy from multiple trajectories. The aim of this study is to assess the efficacy and accuracy of frameless neuronavigation biopsy. We retrospectively reviewed the medical archives of patients with intracranial space occupying lesion who underwent frameless neuronavigation biopsy at our institute between 2016 to 2018. All operations were performed under general anesthesia. Data were analyzed by SPSS version 20. P value of <0.05 was considered significant. There were 46 patients who underwent neuronavigation guided biopsy over the period of two years. Median age of patients was 46.5 years. Supratentorial tumors accounted for 95.8% of cases. Mean tumor diameter was 3.35 cm. Accuracy was 89.1%. More than half were glial tumors. Histopathology was inconclusive in 10.9% cases. Complication rate was 4.3%: one tract hematoma and one new neurological deficit. Frameless neuronavigation guided biopsy of intracranial space occupying lesion is safe and efficacious procedure with high diagnostic yield.

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