scholarly journals Clinical findings and diagnostic tests in the MV2 subtype of sporadic CJD

Brain ◽  
2006 ◽  
Vol 129 (9) ◽  
pp. 2288-2296 ◽  
Author(s):  
A. Krasnianski
Keyword(s):  
Diagnostic Tests ◽  
Clinical Findings ◽  
Sporadic Cjd

Use of 14-3-3 in the diagnosis of Creutzfeldt-Jakob disease

2002 ◽  
Vol 30 (4) ◽  
pp. 382-386 ◽  
Author(s):  
A. J. E. Green
Keyword(s):  
Cerebrospinal Fluid ◽  
Bovine Spongiform Encephalopathy ◽  
Diagnostic Tests ◽  
Human Diseases ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Spongiform Encephalopathies ◽  
Animal Diseases ◽  
Jakob Disease ◽  
Sporadic Cjd

The transmissible spongiform encephalopathies include human diseases such as Creutzfeldt-Jakob disease (CJD) and kuru as well as animal diseases such as scrapie and bovine spongiform encephalopathy (BSE). The emergence of variant CJD, which is causally related to BSE, has generated much interest in the development of rapid and sensitive diagnostic tests for the pre-mortem diagnosis of CJD. In 1986 two proteins were detected in the cerebrospinal fluid (CSF) of patients with sporadic CJD. These proteins were later demonstrated to be members of the 14-3-3 family, and tests for the detection of CSF 14-3-3 were developed. A number of studies have shown that the detection of CSF 14-3-3 is an accurate test for sporadic CJD, although the results with variant CJD are less promising.

scholarly journals Acute Hemorrhagic Infancy of Edema: A Purpuric Rash in 6-Month-Old Infant

2021 ◽  
Vol 9 ◽  
pp. 232470962110174
Author(s):  
Pareen Shah ◽  
Katherine McGlamry ◽  
Amit Thakral
Keyword(s):  
Diagnostic Tests ◽  
Conservative Therapy ◽  
Leukocytoclastic Vasculitis ◽  
Clinical Manifestations ◽  
Clinical Findings ◽  
Urgent Care ◽  
Systemic Involvement ◽  
Purpuric Rash

Acute hemorrhagic edema of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis presenting with purpura, ecchymosis, fever, and edema. Pediatricians must effectively differentiate AHEI from other diseases that have similar presentations but are more severe in order to treat appropriately without overutilizing expensive, unnecessary diagnostic tests. In this article, we describe a case of a 6-month-old previously well male who presented to our institution with a worsening rash and fever. In this case, the patient’s age and benign clinical manifestations without systemic involvement favored the diagnosis of AHEI over more serious conditions. This case is a valuable example of the clinical findings of AHEI and the effectiveness of conservative therapy once a diagnosis is made for pediatricians, especially emergency and urgent care physicians.

Kidney stones

2017 ◽  
Author(s):  
John Reynard ◽  
Ben Turney
Keyword(s):  
Kidney Stones ◽  
Gold Standard ◽  
Diagnostic Tests ◽  
Renal Stones ◽  
Renal Calculi ◽  
Clinical Findings ◽  
Precise Determination ◽  
Plain Radiography ◽  
Ct Urography ◽  
Unenhanced Computed Tomography

This chapter summarizes the variety of ways in which kidney stones can present, clinical findings in patients with renal stones, and the diagnostic tests used to identify them. Plain radiography remains a good way of identifying renal stones if calcified, will identify cysteine stones which are relatively radiolucent, but cannot ‘see’ non-calcium-containing stones (e.g. uric acid, triamterene, indinavir). The sensitivity of ultrasound for detecting renal calculi is variably reported at between 50–95%. Unenhanced computed tomography (CT) is nowadays regarded as the diagnostic gold standard for identifying renal calculi, for measuring their size and number and, to a lesser degree, determining their location. Where doubt exists over stone location, precise determination requires either CT urography or retrograde ureterorenography. The ‘limitation’ of CT is its radiation dose, but as a single ‘upfront’ diagnostic test, there is no substitute.

scholarly journals Prevalence of muscular dystrophy in patients with muscular disorders in Tehran, Iran

2018 ◽  
Vol 28 (2) ◽  
Author(s):  
Khadijeh Hajinaghi Tehrani ◽  
Maliheh Hajiloo ◽  
Elham Asadollahi ◽  
Fariba Paydar Lagini
Keyword(s):  
Family History ◽  
Muscular Dystrophy ◽  
Diagnostic Tests ◽  
Age Of Onset ◽  
Clinical Findings ◽  
Diagnostic Tools ◽  
Pathological Findings ◽  
Genetic Tests ◽  
Cross Sectional ◽  
Muscular Disorders

Muscular dystrophy is a group of diseases that is characterized by progressive muscle wasting and the weakness of variable distribution and severity. On the basis of the distribution of predominant muscle weakness, there are many different kinds of muscular dystrophy. Some dystrophies are especially frequent in certain populations. There are no studies on the prevalence of muscular dystrophy in Iran. This study was aimed to survey the prevalence of muscular dystrophy among Iranian patients with muscular disorders. This analytical cross-sectional study was conducted on 1000 patients with musculoskeletal disorders who visited the dystrophy association of Bou-Ali Hospital (Tehran) from June 2014 to June 2016. Patients’ data were extracted using a checklist that included age, gender, age of onset, family history, findings from clinical diagnostic tests and types of muscular dystrophy. The clinical findings were the results of genetic tests; EMG-NCV; para-clinical findings, including LDH and CPK; and pathological findings. All data were analyzed by SPSS V.22 (IBM Inc., NY) with Chi Square and One way ANOVA tests. All analyses were performed with P = 0.05 considered as the threshold of statistical significant. Out of the 337 patients studied, 262 (77.7%) were male and 75 (22.3%) were female. Subjects had a mean (± SD) age of 26.08 (± 11.86) years with an age range of 3 to 59 years. The most common types of muscular dystrophy were found to be Duchenne dystrophy (131 cases, 38.9%), limb-girdle dystrophy (91 cases, 27%), Becker dystrophy (58 cases, 17.2%), FSHD dystrophy (31 cases, 9.2%), and SMA (26 cases, 7.7%), respectively. The results showed that a statistically significant relationship between dystrophy types and gender, age, family history, age of diagnosis, CPK and LDH levels (P < 0.001). There were no statistical relationship between dystrophy types and pathological findings (P = 0.57), EMG-NCV test results (P = 0.062), and genetic findings (P = 0.06). Since muscular dystrophies often appear during the first decade of life, any information in regard to their prevalence can contribute to better planning and provisioning of required services, as well as better treatment or control of the condition. The results also showed that genetic tests, para-clinical tests, pathology analysis, and EMG-NCV tests can serve as good diagnostic tools for different varieties of dystrophy. Thus, facilitation of these diagnostic tests, particularly the genetic tests, can lead to a faster and more accurate diagnosis of dystrophy, especially in people with a family history of the disease.

scholarly journals Immunoquantitative PCR for Prion Protein Detection in Sporadic Creutzfeldt–Jakob Disease

2005 ◽  
Vol 51 (9) ◽  
pp. 1605-1611 ◽  
Author(s):  
Stéphanie Gofflot ◽  
Manuel Deprez ◽  
Benaïssa el Moualij ◽  
Awad Osman ◽  
Jean-François Thonnart ◽  
...  
Keyword(s):  
Prion Protein ◽  
Sensitivity And Specificity ◽  
Diagnostic Tests ◽  
Detection Threshold ◽  
Protein Detection ◽  
High Specificity ◽  
Proteinase K ◽  
Jakob Disease ◽  
Sporadic Cjd ◽  
Immunohistochemical Analyses

Abstract Background: The most common human prion disorder is Creutzfeldt–Jakob disease (CJD); it includes sporadic, familial, iatrogenic, and variant subtypes. Diagnostic tests aim at detection with the highest specificity of very small deposits of abnormal prion protein (PrP). Methods: We used immunoquantitative PCR (iqPCR) to detect proteinase K–resistant PrP (PrPRes) in tissue from the middle frontal gyrus of 7 patients with sporadic CJD and 7 non-CJD cases. We compared iqPCR with routine optimized ELISA, Western blotting, and immunohistochemical analyses. Results: The 4 methods showed similar 100% sensitivity and specificity for the diagnosis of CJD. Along with high specificity, however, iqPCR had a threshold for PrPRes detection at least 10-fold lower than that of the classic ELISA. Conclusions: iqPCR is a new method for PrPRes detection that combines 100% specificity with a detection threshold at least 10-fold lower than classic techniques. This method may improve the detection of minute PrPRes deposits in tissues and body fluids and thus be useful for diagnostic and sterilization applications.

scholarly journals DENGUE CASES REPORTED DURING 2015-17 IN A TERTIARY CARE HOSPITAL OF ISLAMABAD

2018 ◽  
Vol 8 (3) ◽  
pp. 142-146
Author(s):  
Abdul Wali Khan ◽  
Shahid Hanif ◽  
Shagufta Zafar Qureshi ◽  
Zakir Hussain
Keyword(s):  
Diagnostic Tests ◽  
Urban Areas ◽  
Clinical Symptoms ◽  
Tertiary Care ◽  
Health Resources ◽  
Cross Sectional Study ◽  
Clinical Findings ◽  
Care Hospital ◽  
Cross Sectional ◽  
Post Monsoon

Background: Dengue has emerged as a vector-borne disease with an increase in number of cases with multiple outbreaks throughout Pakistan and hospitalization each passing year, thus stretching available health resources in Pakistan. Methods: This was a descriptive cross-sectional study involving 233 dengue fever indoor cases. Complete clinical findings were recorded followed by laboratory and other diagnostic tests. Results: Most of the cases were admitted from peri-urban areas of Islamabad with symptoms of fever. Seasonal patterns of typical post-monsoon and clusters of cases from low socio-economic backgrounds from areas of Bhara Kau, Bari-Imam, Sohan and G6 and G-7 sectors were found. Platelets and WBCs counts were found on the lower side of the normal values. IgM and IgG and NS1 tests were performed. Affected age group) was young (20-40 years) and male gender being more exposed to vector. Conclusion: Dengue has emerged in the poor peri-urban areas of Islamabad typically in post-monsoon seasons reaching peak during the months of September , gradually declining and waning off in the month of December. A combination of clinical symptoms and diagnostic tests IgM, IgG and NS1 could greatly help in early diagnosis and treatment of cases thus minimizing compilations and mortality.

scholarly journals Diagnosis of Hirschsprung Disease

2019 ◽  
Vol 23 (1) ◽  
pp. 8-22 ◽  
Author(s):  
Lusine Ambartsumyan ◽  
Caitlin Smith ◽  
Raj P Kapur
Keyword(s):  
Diagnostic Tests ◽  
Hirschsprung Disease ◽  
Rectal Biopsy ◽  
Clinical Findings ◽  
Contrast Enema ◽  
Pediatric Hospital ◽  
Common Presentation ◽  
Acetylcholinesterase Histochemistry ◽  
Hematoxylin And Eosin ◽  
Clinical And Pathological Features

Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately rests upon histopathological evaluation of a rectal biopsy. For the experienced pathologist, conventional hematoxylin-and-eosin-stained sections often suffice to exclude HSCR or establish the diagnosis. However, ancillary diagnostic tests such as acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary and extremely helpful in some cases. In this Perspectives article, we review the clinical and pathological features of HSCR, highlight those that are found in most patients, and discuss how to address particularly challenging aspects of the diagnostic workup.

scholarly journals Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD

2020 ◽  
Vol 7 (11) ◽  
pp. 2262-2271
Author(s):  
Christina D. Orrú ◽  
Bradley R. Groveman ◽  
Aaron Foutz ◽  
Matilde Bongianni ◽  
Franco Cardone ◽  
...  
Keyword(s):  
Diagnostic Tests ◽  
2Nd Generation ◽  
Ring Trial ◽  
Sporadic Cjd

scholarly journals Fatal congenital anaplasmosis associated with bovine viral diarrhoea virus (BVDV) infection in a crossbred calf

2011 ◽  
Vol 82 (3) ◽  
Author(s):  
A. R. Pypers ◽  
D. E. Holm ◽  
J. H. Williams
Keyword(s):  
Diagnostic Tests ◽  
Case Reports ◽  
Natural Infection ◽  
Clinical Signs ◽  
Bovine Viral Diarrhoea Virus ◽  
Clinical Findings ◽  
Bovine Viral Diarrhoea ◽  
Academic Hospital ◽  
Experimental Induction ◽  
Diarrhoea Virus

Clinical disease resulting from the vertical transmission of Anaplasma marginale has only been reported on 5 occasions despite studies demonstrating successful in utero transmission. During the reported experimental induction of congenital anaplasmosis in calves, the outcome was variable but mostly led to inapparent or mild infection. There are previous case reports of fatal congenital anaplasmosis following natural infection. The clinical findings in a 2-day-old calf presented to the Onderstepoort Veterinary Academic Hospital with clinical signs of congenital anaplasmosis, which was unresponsive to treatment, are described. Subsequent post mortem diagnostic tests revealed that this calf was co-infected with bovine viral diarrhoea virus (BVDV). It is postulated that immunosuppression resulting from BVDV infection predisposed to severe, fatal anaplasmosis in this calf.

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