scholarly journals Clinical and Laboratory Features of Three Rare Chinese V210I gCJD Patients

Pathogens ◽  
2020 ◽  
Vol 9 (10) ◽  
pp. 800
Author(s):  
Kang Xiao ◽  
Wei Zhou ◽  
Li-Ping Gao ◽  
Yue-Zhang Wu ◽  
Yuan Wang ◽  
...  
Keyword(s):  
East Asia ◽  
Clinical Symptoms ◽  
Prion Diseases ◽  
Chinese Patients ◽  
Eeg Abnormalities ◽  
Laboratory Features ◽  
Myoclonic Movement ◽  
Encoding Gene ◽  
Symptoms And Signs ◽  
Sporadic Cjd

Genetic human prion diseases are a group of inherited encephalopathies directly associated with different mutations in PrP-encoding gene PRNP, including more than 50 different mutations worldwide. Some genotypes of mutations show ethno-correlation, and among them, genetic Creutzfeldt–Jacob disease (gCJD) with V210I mutation is frequent in European countries but rare in East Asia. Here, we comparatively analyzed the clinical and laboratory features of three Chinese patients with V210I mutant identified via the Chinese National CJD Surveillance System (CNS-CJD) in 2019. Two cases were Han Chinese and one was Hui Chinese, without blood kinship. The onset ages of three cases were 69, 64, and 59 years old, respectively. The clinical features of V210I gCJD were similar to sporadic CJD (sCJD), displaying typical clinical symptoms and signs, except that Case 3 did not show myoclonic movement. All three cases displayed sCJD-associated abnormalities on MRI and positive CSF 14-3-3, while two cases recorded typical EEG abnormalities. Only one case was positive in CSF real-time quaking-induced conversion (RT-QuIC). Appearances of mutism in three cases were relatively fast, with the intervals of 30 to 50 days after onset. Family history was not reported in all three cases. Those V210I gCJD cases are rare in China, and probably the first three in East Asia.

scholarly journals Comparative Analysis of The Characteristics of The Chinese gCJD Patients With E196A and E196K Mutation in PRNP

2021 ◽  
Author(s):  
Qi Shi ◽  
Kang Xiao ◽  
Cao Chen ◽  
Wei Zhou ◽  
Li-Ping Gao ◽  
...  
Keyword(s):  
Prion Diseases ◽  
Chinese Patients ◽  
Onset Age ◽  
Survival Times ◽  
Mental Problems ◽  
Male Patients ◽  
Encoding Gene ◽  
Symptoms And Signs ◽  
Sporadic Cjd ◽  
Visual Disturbances

Abstract Background: Genetic human prion diseases are a group of inherited encephalopathies caused by the different mutations in PrP-encoding gene PRNP. The clinical, neuropathological and laboratory features may differ largely according to the mutants at the different positions and with different amino acid. Here, we comparatively analyzed the features of 16 Chinese patients with E196A mutant and 5 patients with E196K mutant identified via Chinese National CJD Surveillance System (CNS-CJD). All genetic Creutzfeldt-Jacob disease (gCJD) with the mutations at codon 196 were Han-Chinese without blood kinship. Methods: Neurological examination, EEG and MRI test, western blot, gene sequence and RT-QuIC.Results: The onset-age of E196K gCJD cases (median of 61 y) was older than that of E196A ones (median of 67 y). Generally, these two subtypes of gCJD were more like sporadic CJD (sCJD) in clinical. The cases with E196A mutant showed more foremost symptoms, while those of E196K mutant restricted to dementia and mental problems. During the progression, more sCJD-associated symptoms and signs gradually appeared, but none of E196K cases showed cerebellum and visual disturbances. Typical PSWC on MRI was recorded in 20% E196A cases but not in all E196K cases. sCJD-associated abnormalities on MRI, positive CSF 14-3-3 and increased CSF total tau were observed frequently, ranging from 2/3 to 4/5 cases without difference between E196A and E196K cases. Family history was not reported in all cases. Positive of CSF RT-QuIC was detected in 37.5% (6/16) E196A cases and 60% (3/5) E196K cases. The duration of E196K cases (median of 4.5 m, from 2 to 5 m) were shorter than that of E196A cases (median of 6.5 m, from 2 to 28 m). Moreover, the female cases and the cases with young onset-age (<60 y) of E196A cases displayed much longer survival times than the male patients and the cases with older onset-age (>60 y).Conclusion: E196A gCJD is now the 5th most frequently observed genetic prion diseases in China. This is the largest comprehensive report of gCJD with the mutations at codon of 196 by now, which showing obvious diversity in clinical and laboratory tests between E196A and E196K mutants. Substitution of different amino acids at the same position induce the different clinical phenotype.

Scoring System for the Diagnosis of COVID-19

2020 ◽  
Vol 13 (1) ◽  
pp. 413-414 ◽  
Author(s):  
Mohamed Farouk Allam
Keyword(s):  
Scoring System ◽  
Clinical Symptoms ◽  
False Negative ◽  
Nasopharyngeal Swab ◽  
Rt Pcr ◽  
Pcr Assay ◽  
Negative Results ◽  
False Negative Results ◽  
Symptoms And Signs

Due to the international spread of COVID-19, the difficulty of collecting nasopharyngeal swab specimen from all suspected patients, the costs of RT-PCR and CT, and the false negative results of RT-PCR assay in 41% of COVID-19 patients, a scoring system is needed to classify the suspected patients in order to determine the need for follow-up, home isolation, quarantine or the conduction of further investigations. A scoring system is proposed as a diagnostic tool for suspected patients. It includes Epidemiological Evidence of Exposure, Clinical Symptoms and Signs, and Investigations (if available). This scoring system is simple, could be calculated in a few minutes, and incorporates the main possible data/findings of any patient.

Scrub typhus (Orientia tsutsugamushi), A rapidly spreading epidemic in Chennai - A standalone lab experience

2016 ◽  
Vol 5 (09) ◽  
pp. 4896
Author(s):  
Sripriya C.S.* ◽  
Shanthi B. ◽  
Arockia Doss S. ◽  
Antonie Raj I. ◽  
Mohana Priya
Keyword(s):  
Scrub Typhus ◽  
Clinical Symptoms ◽  
Clinical Manifestations ◽  
Febrile Illness ◽  
Orientia Tsutsugamushi ◽  
The Past ◽  
Igm Elisa ◽  
The Mean ◽  
Specific Symptoms ◽  
Symptoms And Signs

Scrub typhus (Orientia tsutsugamushi), is a strict intracellular bacterium which is reported to be a recent threat to parts of southern India. There is re-emergence of scrub typhus during the past few years in Chennai. Scrub typhus is an acute febrile illness which generally causes non-specific symptoms and signs. The clinical manifestations of this disease range from sub-clinical disease to organ failure to fatal disease. This study documents our laboratory experience in diagnosis of scrub typhus in patients with fever and suspected clinical symptoms of scrub typhus infection for a period of two years from April 2014 to April 2016 using immunochromatography and IgM ELISA methods. The study was conducted on 648 patients out of whom 188 patients were found to be positive for scrub typhus. Results also showed that pediatric (0 -12 years) and young adults (20 – 39 years) were more exposed to scrub typhus infection and female patients were more infected compared to male. The study also showed that the rate of infection was higher between September to February which also suggested that the infection rate is proportional to the climatic condition. Statistical analysis showed that the mean age of the patients in this study was 37.6, standard deviation was 18.97, CV % was 50.45. 

scholarly journals Development of revised diagnostic criteria for Fuchs’ uveitis syndrome in a Chinese population

2021 ◽  
pp. bjophthalmol-2021-319343
Author(s):  
Peizeng Yang ◽  
Wanyun Zhang ◽  
Zhijun Chen ◽  
Han Zhang ◽  
Guannan Su ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Symptoms ◽  
Southern China ◽  
High Sensitivity ◽  
Northern China ◽  
Chinese Patients ◽  
Tertiary Referral Centre ◽  
Tree Algorithms ◽  
Vitreous Opacities ◽  
Fuchs Uveitis Syndrome

Background/aimsFuchs’ uveitis syndrome (FUS) is one of the frequently misdiagnosed uveitis entities, which is partly due to the absence of internationally recognised diagnostic criteria. This study was performed to develop and evaluate a set of revised diagnostic criteria for FUS.MethodsThe clinical data of Chinese patients with FUS and patients with non-FUS were collected and analysed from a tertiary referral centre between April 2008 and December 2020. A total of 593 patients with FUS and 625 patients with non-FUS from northern China were enrolled for the development of diagnostic criteria for FUS. Three hundred and seventy-seven patients with FUS and 503 patients with non-FUS from southern China were used to validate the criteria. Clinical symptoms and ocular signs were collected from all patients with FUS and patients with non-FUS. Multivariate two-step cluster analysis, logistic regression and decision tree algorithms in combination with the clinical judgement of uveitis experts were used to revise diagnostic criteria for FUS.ResultsThree essential findings including diffuse iris depigmentation, absence of posterior synechiae, mild inflammation in the anterior chamber at presentation and five associated findings including mostly unilateral involvement, cataract, vitreous opacities, absence of acute symptoms and characteristic iris nodules were used in the development of FUS diagnostic criteria. All essential findings were required for the diagnosis of FUS, and the diagnosis was further strengthened by the presence of associated findings.ConclusionRevised diagnostic criteria for FUS were developed and validated by analysing data from Chinese patients and showed a high sensitivity (96.55%) and specificity (97.42%).

scholarly journals A rational approach to the diagnosis of polycystic ovarian syndrome during adolescence

2011 ◽  
Vol 55 (8) ◽  
pp. 590-598 ◽  
Author(s):  
Paulina M. Merino ◽  
Ethel Codner ◽  
Fernando Cassorla
Keyword(s):  
Polycystic Ovarian Syndrome ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Rational Approach ◽  
Adult Women ◽  
Ovulatory Dysfunction ◽  
Ovarian Morphology ◽  
Key Factor ◽  
Symptoms And Signs ◽  
Ovarian Syndrome

Polycystic ovarian syndrome (PCOS) is a lifelong disorder characterized by hyperandrogenism and ovulatory dysfunction, with a wide spectrum of clinical symptoms and signs. Three different sets of diagnostic criteria have been established in order to define this disease in adult women, but there is controversy regarding the use of these criteria in adolescence. During puberty, the adult criteria for ovulatory dysfunction does not seem applicable, because an irregular menstrual pattern and a decreased ovulatory rate is a physiologic event during this period of life. Also, a higher prevalence of polycystic ovarian morphology (PCOM) may be observed during this period, so PCOM is not a useful criterion to define PCOS in young women. These findings suggest that a key factor to diagnose to PCOS during adolescence is hyperandrogenism. In addition, since PCOM is not clearly associated with hyperandrogenism during this period of life, the term "polycystic ovarian syndrome" during adolescence creates confusion and may be misleading.

Regional anesthesia and acute compartment syndrome: principles for practice

2021 ◽  
pp. rapm-2021-102735
Author(s):  
Tim Dwyer ◽  
David Burns ◽  
Aaron Nauth ◽  
Kaitlin Kawam ◽  
Richard Brull
Keyword(s):  
Compartment Syndrome ◽  
Regional Anesthesia ◽  
Clinical Symptoms ◽  
Motor Nerve ◽  
Acute Compartment Syndrome ◽  
Clinical Settings ◽  
Tissue Ischemia ◽  
Orthopedic Surgical Procedures ◽  
Cardinal Symptom ◽  
Symptoms And Signs

Acute compartment syndrome (ACS) is a potentially reversible orthopedic surgical emergency leading to tissue ischemia and ultimately cell death. Diagnosis of ACS can be challenging, as neither clinical symptoms nor signs are sufficiently sensitive. The cardinal symptom associated with ACS is pain reported in excess of what would otherwise be expected for the underlying injury, and not reasonably managed by opioid-based analgesia. Regional anesthesia (RA) techniques are traditionally discouraged in clinical settings where the development of ACS is a concern as sensory and motor nerve blockade may mask symptoms and signs of ACS. This Education article addresses the most common trauma and elective orthopedic surgical procedures in adults with a view towards assessing their respective risk of ACS and offering suggestions regarding the suitability of RA for each type of surgery.

Association between COMT gene polymorphisms, clinical symptoms, and cognitive functions in Han Chinese patients with schizophrenia

2018 ◽  
Vol 28 (3) ◽  
pp. 47-54 ◽  
Author(s):  
Zuoli Sun ◽  
Zhengrong Zhang ◽  
Peixian Mao ◽  
Yun Ma ◽  
Wenbiao Li ◽  
...  
Keyword(s):  
Cognitive Functions ◽  
Gene Polymorphisms ◽  
Clinical Symptoms ◽  
Han Chinese ◽  
Comt Gene ◽  
Chinese Patients
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