etiologic diagnosis
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2021 ◽  
Author(s):  
Yue Liu ◽  
Yan Liu ◽  
Xue Zhao ◽  
Hai Xian Guo ◽  
Dan Yu

Abstract Objective: This case improves the early etiologic diagnosis of recurrent and refractory secretory otitis media, avoiding missed diagnosis and misdiagnosis.Methods: Collecting the clinical manifestations of this case, fiberoptic otoscopy + fiber nasopharyngoscopy and imaging features.Results: This patient was admitted to the hospital with hearing loss and ear suffocation. He did not find the cause at the beginning of the disease. Before the hospital, he underwent the treatment of tympanic incision and eustachian tube balloon expansion with simple secretory otitis media, but still recurrent, he came into our hospital through imaging and other further examination this time, having the clear cause that the secretory otitis media recurrent episodes due to tumor lesions in the pterygopalatine. Under the general anesthesia, the navigation system assisted the endoscopic sinus combined with the cryo-plasma wing axillary tumor resection, and the right ear tympanic membrane incision was performed under the microscope.Conclusions: Clinicians need to be cautious and consider the causes in order to reduce missed diagnosis and misdiagnosis, and provide early diagnosis and early treatment to improve the quality of life of patients.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
W Messadi ◽  
A Salmi ◽  
N Guemri ◽  
N Cherif

Abstract Background Uveitis refers to the inflammation of the vascular tunic of the eye. This inflammation varies greatly in its clinical expressions and etiologies and is often a majordiagnostic challenge for physicians. These data cover symptoms, clinical examination results, complications, etiologies and treatments Methods A retro-prospective monocentric study was carried out on 22patients hospitalized in the pediatric department of the issaadhassani hospital of Algiers during the period of January 2017 to December 2021. Results The sex ratio is 1,2. Their average age was 8 years (4–15Y). Most of thepatients consulted for the three cardinal signs of uveitis: 81% for a decrease in visual acuity, 59% for redness, and 43% for ocular pain. Uveitis was bilateral in 55% of the cases. Inanatomical localization, 45,5% of patients had total uveitis, 27% had anterior uveitis, and 18% had intermediate uveitis, and 9% had anterior and intermediate uveitis. An etiologic diagnosis was made in 32% of the cases. The most frequent causes were inflammatory. Treatments consisted of local corticosteroid therapy for all thepatients, a general corticoid treatment for all of the patients, associated with an immunosuppressive treatment for 50% and biologic anti TNF α treatment (adalimumab) for23% cases. A good evolution after treatment was noted among patients with visual acuity <3/10 with a substantial decrease from 67% to 2%.77.5% are in remission, 13.5% are improving and 9% are in relapse the duration of the follow-up is 1 ½ years with intervals of 2 months and 5 years. Conclusion The results of the current study are generally compatible with the literature. however. The percentage of etiologies covered remains a point to improve, The pooled prevalence of uveitis in pediatric rheumatic diseases widely varied based on the underlying disease requiring more investigations in different subtypes of rheumatic diseases. The biologic medications, especially Adalimumab are the most effective treatments for uveitis in pediatric rheumatic diseases; however, a combination of the safe, available alternatives is preferred to achieve the most desirable treatment response.


2021 ◽  
Vol 26 (2) ◽  
pp. 20-22
Author(s):  
Adeline Larisa Horga

Abstract Procalcitonin is a new generation marker used to differentiate bacterial from viral pneumonia. Although it is not a test routinely used in practice, it can be included in diagnosis and treatment algorithm of pneumonia in children. Studies have shown the effectiveness of procalcitonin in determining of duration of antibiotherapy and hospitalization, too. The test is superior to the other laboratory parameters, compared to reactive C protein, inclusively. Depending on the result of the pulmonary x-ray (bacterial pneumonia) admitted patients were included in: study group – patients with increased values of procalcitonin, and control group – patients with normal values ones. The study proposed a comparative analysis; the correlation index was used to demonstrate how laboratory parameters can interact, and the evolutionary trend of studied parameters was analysed. The results are consistent with the literature data, validating the superiority of procalcitonin in establishing the etiologic diagnosis and the treatment evaluation in bacterial pneumonia in children.


2021 ◽  
Author(s):  
Cristina Campi ◽  
Chiara Briani ◽  
Sara Gusella ◽  
Alessandro Spimpolo ◽  
Alessandro Salvalaggio ◽  
...  

Abstract Introduction:In recent years, bone scintigraphy has emerged as a key tool for non-invasive etiologic diagnosis of transthyretin (ATTR) cardiac amyloidosis (CA). The qualitative Perugini scoring system is currently the most widely-used method to evaluate myocardial uptake of bone-seeking agents. A semi-quantitative approach may, however, be more useful in clinical practice for both diagnosis and therapeutic follow-up. In this study we focused on a new semi-quantification method with the aim of improving the diagnostic accuracy of CA. Material and Methods:We retrospectively evaluated 8674 consecutive 99mTc-biphosphonate (HMDP or DPD) scintigraphies performed at the Nuclear Medicine Unit of the Azienda Ospedale-Università Padova between January 2012 and December 2016. The qualitative Perugini scoring system was compared with three recently proposed semi-quantitative indices (ratio of heart to thighs: RHT; ratio of lungs to thighs: RLT; ratio of femur to thighs: RFT) in 68 individuals presenting significant myocardial uptake (mean age 79 ± 7 years, range 62-100 years; female/male ratio 16/52). We took 349 consecutive bone scintigraphies qualitatively absent of any cardiac/pulmonary uptake as healthy controls (HC).Results:The RHT and RLT indices (for both males and females) were significantly higher in patients (visual Perugini scores from 1 to 3) than in HCs (p £0.0001). There were also statistically significant differences for RHT (in both sexes) in HCs vs patients with qualitative scores of 1 or >1 (with p ranging from £0.001 to £0.0001). Analysis of the ROC curves showed that RHT outperformed the other two indices (RLT and RFT) and was more sensitive and specific in both male and female groups. Furthermore, in the male population, RHT very accurately distinguished HCs and patients with scores of 1 (known to be less likely affected by ATTR) from patients with qualitative scores >1 (known to be more likely affected by ATTR) with an AUC of 99% (sensitivity: 95%; specificity: 97%).Conclusion:The proposed semi-quantitative RHT index can accurately distinguish between HCs and subjects with CA (Perugini scores from 1 to 3) in both females and males. Furthermore, RHT is able to predict with very high accuracy subjects in the male population more likely to be affected by ATTR (qualitative scores >1).


2021 ◽  
Vol 12 (10) ◽  
pp. 441-450
Author(s):  
Ning Xu ◽  
Zhangshun Shen ◽  
Chang Lv ◽  
Qian Zhao ◽  
Hui Guo ◽  
...  

Diagnostics ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. 672
Author(s):  
Sang-Yeon Lee ◽  
Doo-Yi Oh ◽  
Jin Hee Han ◽  
Min Young Kim ◽  
Bonggi Kim ◽  
...  

Routine application of next-generation sequencing in clinical settings is often limited by time- and cost-prohibitive complex filtering steps. Despite the previously introduced genotyping kit that allows screening of the 11 major recurring variants of sensorineural hearing loss (SNHL) genes in the Korean population, the demand for phenotype- and variant-specific screening kits still remains. Herein, we developed a new real-time PCR-based kit (U-TOP™ HL Genotyping Kit Ver2), comprising six variants from two auditory neuropathy spectrum disorder (ANSD) genes (OTOF and ATP1A3) and five variants from three SNHL genes (MPZL2, COCH, and TMC1), with a distinct auditory phenotype, making this the first genotyping kit dedicated to ANSD. The concordance rate with Sanger sequencing, sensitivity, and specificity of this genotyping kit were all 100%, suggesting reliability. The kit not only allows timely and cost-effective identification of recurring OTOF variants, but it also allows timely detection of cochlear nerve deficiency for those without OTOF variants. Herein, we provide a clinical guideline for an efficient, rapid, and cost-effective etiologic diagnosis of prelingual ANSD. Our study provides a good example of continuing to update new key genetic variants, which will continuously be revealed through NGS, as targets for the newly developed genotyping kit.


2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Wai Sing Chan ◽  
Chun Hang Au ◽  
Sau Man Leung ◽  
Dona N. Ho ◽  
Elaine Yue Ling Wong ◽  
...  

2020 ◽  
Vol 58 (6) ◽  
Author(s):  
Yi-Wei Tang ◽  
Jonathan E. Schmitz ◽  
David H. Persing ◽  
Charles W. Stratton

ABSTRACT The COVID-19 outbreak has had a major impact on clinical microbiology laboratories in the past several months. This commentary covers current issues and challenges for the laboratory diagnosis of infections caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). In the preanalytical stage, collecting the proper respiratory tract specimen at the right time from the right anatomic site is essential for a prompt and accurate molecular diagnosis of COVID-19. Appropriate measures are required to keep laboratory staff safe while producing reliable test results. In the analytic stage, real-time reverse transcription-PCR (RT-PCR) assays remain the molecular test of choice for the etiologic diagnosis of SARS-CoV-2 infection while antibody-based techniques are being introduced as supplemental tools. In the postanalytical stage, testing results should be carefully interpreted using both molecular and serological findings. Finally, random-access, integrated devices available at the point of care with scalable capacities will facilitate the rapid and accurate diagnosis and monitoring of SARS-CoV-2 infections and greatly assist in the control of this outbreak.


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