Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens

1972 ◽  
Vol 6 (1) ◽  
pp. 51-59 ◽  
Author(s):  
William H. Murphey ◽  
Linda Patchen ◽  
Robert Guthrie
2016 ◽  
Vol 5 (01) ◽  
pp. 4756
Author(s):  
Shadma Yaqoob

Enterococci have emerged as important nosocomial pathogens from a variety of clinical conditions and the major reason for this is the trend of increasing antimicrobial resistance and enterococcal bacteraemia results in a high mortality. The present study was undertaken to determine the occurrence, species prevalence, antibacterial resistance, with a special reference to vancomycin and high level aminoglycoside resistance. Material and methods: The study was conducted on blood culture isolates. The antibiotic susceptibility of isolates by the Kirby Bauer disc diffusion method was done according to the CLSI guidelines. Screening tests for high level aminoglycosides and vancomycin and minimum inhibitory concentration (MIC) tests for vancomycin was done. The blood specimens were cultured and suspected growths were identified to species level and found to consist mostly of E. fecalis (70%). VRE accounted for 2 (91%) isolates and high level aminoglycoside resistance was seen in 47.82 and 60.86 isolates. The E. faecium isolates were more drug resistant than the E. faecalis isolates. Linezolid and Teicoplanin showed good anti-enterococcal activity. This study shows an emergence of Vancomycin resistant enterococcus (VRE) along with increased rate of multidrug-resistant enterococci. Regular surveillance of antimicrobial susceptibilities and treatment of enterococcal infections should be done effectively to limit the spread of multidrug resistance.


1999 ◽  
Vol 45 (9) ◽  
pp. 1602-1613 ◽  
Author(s):  
Howard B Urnovitz ◽  
Jerrilyn C Sturge ◽  
Toby D Gottfried ◽  
William H Murphy

Abstract Background: Noninvasive methodologies provide alternatives to diagnostic blood tests and have high patient acceptance, increased safety, and reduced costs. Such tests may supplement or replace blood diagnostic assays currently in use. Methods: Using a licensed urine-based test for antibody to HIV-1, we performed 25 991 HIV-1 urine antibody enzyme immunoassay (EIA) screening tests [confirmable by HIV-1 Western blot (WB)] on paired urine and blood specimens obtained from high- and low-risk HIV-1 subjects collected at six sites representative of the US population. Results: Using HIV-1 urine EIA tests confirmed by urine Western blot, a compartmentalized immune response (urine positive/serum negative) occurred in 0.24% of a cohort of 11 896 subjects. In the same cohort, specimens that were urine negative/serum positive occurred in 0.17% of subjects. In a second study of 25 991 subjects that included 859 high-risk individuals, the false-positive urine EIA frequency (urine WB negative or indeterminate) was 1.3%. This false-positive frequency in the high-risk cohort was attributed, in part, to an IgA antibody response. We tabulated urine and serum indeterminate reactivities and examined their possible causes. Data are presented showing that antibodies from a seroindeterminate HIV-1vau group O subject were reactive in urine EIA and urine WB tests. An analysis of the HIV-1vau strain group O env nucleotide sequence disclosed a high frequency of homology with human chromosome 7q31, a fragile site implicated in many human malignancies. Conclusions: These results demonstrate the utility of urine for alternative HIV-1 antibody testing and provide new insights into the pathogenesis of HIV-1 infection and into potential application of this approach in investigation of other microbial pathogens and toxic compounds.


2020 ◽  
Vol 34 (1) ◽  
pp. 27-38
Author(s):  
Özlem Akpınar ◽  
Yalçın Büyük ◽  
Nihan Ziyade ◽  
Murat Nihat Arslan

PLoS ONE ◽  
2021 ◽  
Vol 16 (2) ◽  
pp. e0246736
Author(s):  
Tawatchai Apidechkul ◽  
Fartima Yeemard ◽  
Chalitar Chomchoei ◽  
Panupong Upala ◽  
Ratipark Tamornpark

Background Thalassemia is a severe disease that occurs due to abnormalities in hemoglobin genes. Various genetic factors in different populations lead to different clinical manifestations of thalassemia disease, particularly among people who have a long history of migration and who have married among tribes, such as the hill tribe people in Thailand. This genetic epidemiological study aimed to estimate the prevalence of various forms of thalassemia among the six main hill tribe populations in Thailand. Methods A cross-sectional study was conducted to obtain information and blood specimens from school children belonging to one of the six main hill tribes in Thailand: Akha, Lau, Hmong, Yao, Karen, and Lisu. Hill tribe children who were attending grades 4–6 in 13 selected schools in Chiang Rai Province, Thailand, were invited to participate in the study. A validated questionnaire and 3 mL blood specimens were collected after obtaining information consent forms from both the children and their parents on a voluntary basis. A complete blood count (CBC) was performed, followed by osmotic fragility (OF) and dichlorophenol indophenol precipitation (DCIP) tests to screen for thalassemia. High-performance liquid chromatography (HPLC) and real-time quantitative polymerase chain reaction (qPCR) were used to identify hemoglobin type and α-thalassemia, respectively. A t-test, chi-square and logistic regression were used to detect the associations between variables at the significance level of α = 0.05. Results A total of 1,200 participants from 6 different tribes were recruited for the study; 50.0% were males, and 67.3% were aged 11–12 years. The overall prevalence of thalassemia carriers according to the screening tests was 9.8% (117 of 1,200). Among the cases, 83 were A2A (59 cases were α-thalassemia 1 carrier or α-thalassemia 2 carrier or homozygous α-thalassemia 2, and 24 cases were β-thalassemia trait with or without α-thalassemia); 1 case was EE (homozygous Hb E with or without α-thalassemia); 31 cases were EA (30 cases were the Hb E trait, and 1 case was Hb E trait with or without α-thalassemia); 1 case was A2A Bart’s H (Hb H disease α-thalassemia 1/α-thalassemia 2); and 1 case was A2A with abnormal Hb. The prevalence of the α-thalassemia 1 trait among the hill tribe population was 2.5%. The greatest prevalence of the α-thalassemia 1 trait was found in the Karen (3.0%) and Hmong (3.0%) tribes. Conclusions The prevalence of some forms of thalassemia in the hill tribe population is higher than that in the Thai and other populations. Effective and available thalassemia screening tests, including essential information to protect the next generation through the specific counseling clinic, are crucial, particularly due to increasing marriages within these populations.


Author(s):  
F. G. Zaki ◽  
E. Detzi ◽  
C. H. Keysser

This study represents the first in a series of investigations carried out to elucidate the mechanism(s) of early hepatocellular damage induced by drugs and other related compounds. During screening tests of CNS-active compounds in rats, it has been found that daily oral administration of one of these compounds at a dose level of 40 mg. per kg. of body weight induced diffuse massive hepatic necrosis within 7 weeks in Charles River Sprague Dawley rats of both sexes. Partial hepatectomy enhanced the development of this peculiar type of necrosis (3 weeks instead of 7) while treatment with phenobarbital prior to the administration of the drug delayed the appearance of necrosis but did not reduce its severity.Electron microscopic studies revealed that early development of this liver injury (2 days after the administration of the drug) appeared in the form of small dark osmiophilic vesicles located around the bile canaliculi of all hepatocytes (Fig. 1). These structures differed from the regular microbodies or the pericanalicular multivesicular bodies. They first appeared regularly rounded with electron dense matrix bound with a single membrane. After one week on the drug, these vesicles appeared vacuolated and resembled autophagosomes which soon developed whorls of concentric lamellae or cisterns characteristic of lysosomes (Fig. 2). These lysosomes were found, later on, scattered all over the hepatocytes.


2015 ◽  
Vol 72 (4) ◽  
pp. 219-224 ◽  
Author(s):  
Stephanie A. Bridenbaugh

Es gibt eine starke Assoziation zwischen Kognition und Mobilität. Ältere Erwachsene mit Gangdefiziten haben ein erhöhtes Risiko, kognitive Defizite, sogar eine Demenz, zu entwickeln. Kognitive Defizite wiederum sind mit einer Verschlechterung des Gehens assoziiert. Sowohl kognitive als auch Mobilitätsdefizite sind mit einem erhöhten Sturzrisiko verbunden. Untersuchungen der Kognition, vor allem der Exekutivfunktionen, und die funktionale Mobilität sollen daher ein wesentlicher Bestandteil jedes umfassenden geriatrischen Assessments sein. Einige schnelle Screening-Tests können in der Hausarztpraxis durchgeführt werden, um Mobilitätsprobleme zu erfassen. Falls diese pathologisch ausfallen, sollten genauere Ganguntersuchungen veranlasst werden. Bei Untersuchungen des Ganges sind Dual-Task Paradigmen (Gehen und gleichzeitig eine andere Aufgaben ausführen) besonders aussagekräftig in der Früherkennung von Mobilitäts- und auch Hirnleistungsdefiziten. Die Früherkennung erlaubt eine frühzeitige Implementierung von gezielten Interventionen, um die Gangsicherheit und möglicherweise auch gewisse Hirnleistungen zu verbessern.


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