Tay-Sachs disease (GM2 gangliosidosis, type 1; TSD) is an autosomal recessive GM2 gangliosidosis resulting from the deficient activity of the lysosomal hydrolase beta-hexosaminidase A (Hex A). With a carrier frequency estimated at 1 in 25, it is a common lysosomal disorder in the Ashkenazi Jewish population. Tay-Sachs disease has provided the prototype for the prevention of severe recessive genetic diseases. Molecular analysis of the Hex A gene (HEXA) of Ashkenazi Jewish individuals affected with Tay-Sachs disease revealed that three common mutations cause the infantile and adult onset forms of the disease; a four base insertion in exon 11, a splice junction mutation in intron 12 and a point mutation in exon 7 (G269S). A study was undertaken to determine whether mutation analysis would be useful in TSD screening programs in identifying carriers and clarifying the status of individuals whose enzyme assays are inconclusive. Ashkenazi Jewish individuals who had been diagnosed as carriers, inconclusives by enzyme assay and non-carriers with low normal enzyme levels in the Mount Sinai Tay-Sachs Disease Prevention Program were examined for the presence of the three mutations using polymerase chain reaction (PCR) and allele specific oligonucleotide (ASO) hybridization. The insertion mutation was present in 29 of 34 carriers and 2 of 36 inconclusive individuals, the splice junction mutation was found in 4 of 34 carriers and the G269S mutation was found in 1 of 34 carriers. Of the 313 non-carrier individuals with normal enzyme activity in the lower normal range, one was positive for the splice junction mutation.(ABSTRACT TRUNCATED AT 250 WORDS)
Base Sequence ; *Clinical Enzyme Tests ; DNA/*analysis ; *Genetic Testing ; *Heterozygote ; Heterozygote Detection ; Humans ; Molecular Sequence Data ; Mutation ; Tay-Sachs Disease/*genetics

Acetylglucosaminidase ; urine ; Adult ; Biomarkers ; urine ; Clinical Enzyme Tests ; Female ; Humans ; Insecticides ; poisoning ; Kidney Diseases ; chemically induced ; urine ; Male ; Middle Aged ; Organophosphate Poisoning ; Poisoning ; urine

Objective: To investigate the value of the content of neutrophil elastase (NE) in the expressed prostatic secretion (EPS) and seminal plasma (SP) as a combined predictor in the diagnosis of type IIIA prostatitis with secondary infertility. METHODS: This study included 62 fathers (group A) and 67 infertile men (group B), all with type IIIA prostatitis, and another 57 controls with no genitourinary tract disease (group C). We measured the NE contents in the EPS and SP, obtained the results of routine semen and EPS examinations and Chronic Prostatitis Symptom Index (CPSI), and calculated the ratio of EPS NE/SP NE by binary logistic regression analysis. RESULTS: The combined predictor of type IIIA prostatitis with secondary infertility was SP NE-2 × EPS NE. Among the 129 patients with type IIIA prostatitis, the combined predictor was correlated strongly negatively with the WBC count in the EPS (r = －0.914, P <0.01), negatively with CPSI, sperm concentration, sperm mobility and sperm viability (P <0.01), but not significantly with the WBC count or pH value in the SP (P >0.05). The mean values of the combined predictor in groups A, B, and C were －2 238 (95% CI: －2 595 to －2 054), －1 511 (95% CI: －1 778 to －1 307), and －148 (95% CI: －181 to －118), respectively, with statistically significant differences between the cases and controls as well as between groups A and B (P <0.01). The area under the ROC curve of the combined predictor for the diagnosis of type IIIA prostatitis with secondary infertility was 0.71 (P <0.001). CONCLUSIONS The content of neutrophil elastase in the EPS combined with that in the seminal plasma contributes to the diagnosis of type IIIA prostatitis with secondary infertility, which is superior to either the neutrophil elastase content in the EPS or that in the seminal plasma used alone.
Biomarkers ; analysis ; Chronic Disease ; Clinical Enzyme Tests ; methods ; Fathers ; Humans ; Infertility ; diagnosis ; etiology ; Leukocyte Elastase ; analysis ; Male ; Prostatitis ; complications ; diagnosis ; Semen ; enzymology ; Semen Analysis ; Sperm Motility

BACKGROUND/AIMS: The 13C-urea breath test (UBT) is a semiquantitative test for measuring Helicobacter pylori infection loading. H. pylori produces ammonia, which elevates the pH of the gastric mucosa and is detectable via endoscopy using a phenol red indicator. We evaluated whether this test could be used to diagnose H. pylori infection and whether phenol red staining was correlated with 13C-UBT results. METHODS: One hundred and twenty-three patients participated. The UBT was performed after ingestion of a capsule containing urea. A change in 13C-UBT >2 ppt was selected as the cutoff value for diagnosing infection. After spraying evenly with a 0.1% phenol red solution, the pH of the gastric mucosal surface was measured using an antimony electrode through the biopsy channel. RESULTS: The pH of stained mucosa (6.9+/-0.4) was significantly higher than that of unstained mucosa (1.9+/-0.8; p<0.001), and the H. pylori detection rate confirmed via histology was higher in stained versus unstained mucosa (p<0.01). Extensive mucosal staining resulted in a higher detection rate (p<0.001). The UBT produced results were very similar to those obtained via histological detection in stained mucosa (p<0.001). The extent of staining, expressed as a staining score, was positively correlated with the change in 13C-UBT (r=0.426, p<0.001). A significant correlation was also observed between the histologically determined H. pylori density and 13C-UBT results (r=0.674, p<0.001). CONCLUSIONS: H. pylori infection elevates gastric mucosal surface pH, and endoscopic phenol red staining may be an alternative method for the diagnosis of H. pylori infection.
Adult ; Aged ; Breath Tests ; Clinical Enzyme Tests ; *Endoscopy, Gastrointestinal ; *Esophageal pH Monitoring ; Female ; Gastric Mucosa/pathology ; Helicobacter Infections/*diagnosis ; Helicobacter pylori/*isolation & purification ; Humans ; Male ; Middle Aged ; Phenolsulfonphthalein/*diagnostic use ; Urease/*diagnostic use

BACKGROUND/AIMS: M2 pyruvate kinase (M2-PK) is an enzyme that is produced in undifferentiated and proliferating tissues. This study aims to evaluate the usefulness of the immunochromatographic M2 pyruvate kinase (iM2-PK) for the screening of colorectal cancer (CRC) and premalignant lesions. METHODS: Healthy volunteers and patients with colorectal neoplasia were enrolled in six academic hospitals in the capital province of Korea. The iM2-PK value was compared with the immunochromatographic fecal occult blood test (iFOBT) and fecal tumor M2-PK enzyme-linked immunosorbent assay (ELISA). RESULTS: A total of 323 subjects were enrolled. The sensitivity of iM2-PK for CRC was 92.8%, which was superior to iFOBT (47.5%, p<0.0001). For adenomatous lesions, the sensitivity of iM2-PK was 69.4%, which was also superior to iFOBT (12.1%, p<0.001). Compared with M2-PK ELISA, iM2-PK exhibited significantly enhanced sensitivity for CRC (97.5% vs 80.0%, p=0.0289). The sensitivity of iM2-PK was higher in advanced stages of CRC compared with cancers confined to the mucosa and submucosa (p<0.05). However, lymph node metastasis had no influence on the sensitivity of iM2-PK. CONCLUSIONS: The iM2-PK exhibited increased sensitivity for identifying CRC and adenomatous lesions compared with iFOBT. Given its rapid results and convenience, CRC screening using iM2-PK is promising.
Adenoma/*diagnosis ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/*analysis ; Clinical Enzyme Tests/*instrumentation ; Colorectal Neoplasms/*diagnosis ; Enzyme-Linked Immunosorbent Assay ; Feces/*enzymology ; Female ; Healthy Volunteers ; Humans ; Immunochromatography/methods ; Male ; Middle Aged ; Occult Blood ; Precancerous Conditions/diagnosis/enzymology ; Predictive Value of Tests ; Pyruvate Kinase/*analysis ; Reagent Kits, Diagnostic ; Republic of Korea ; Sensitivity and Specificity

A synthetic peptide was prepared based on the antigenic region of Paragonimus westermani pre-procathepsin L, and its applicability for immunodiagnosis for human paragonimiasis (due to Paragonimus heterotremus) was tested using an ELISA to detect IgG4 antibodies in the sera of patients. Sera from other helminthiases, tuberculosis, and healthy volunteers were used as the references. This peptide-based assay system gave sensitivity, specificity, accuracy, and positive and negative predictive values of 100%, 94.6%, 96.2%, 100%, and 88.9%, respectively. Cross reactivity was frequently seen against the sera of fascioliasis (75%) and hookworm infections (50%). Since differential diagnosis between paragonimiasis and fascioliasis can be easily done by clinical presentation and fascioliasis serology, this cross reaction is not a serious problem. Sera from patients with other parasitoses (0-25%) rarely responded to this synthetic antigen. This synthetic peptide antigen seems to be useful for development of a standardized diagnostic system for paragonimiasis.
Adult ; Animals ; Antibodies, Helminth/*blood ; Antigens, Helminth/*diagnostic use ; Clinical Laboratory Techniques/*methods ; Cross Reactions ; Enzyme-Linked Immunosorbent Assay/methods ; Humans ; Immunoglobulin G/*blood ; Paragonimiasis/*diagnosis ; Paragonimus/*immunology ; Parasitology/*methods ; Predictive Value of Tests ; Sensitivity and Specificity

OBJECTIVE: To investigate the relationship between DNA degradeation and postmortem interval. METHODS: dUTP was transferred to 3'terminal of DNA by using terminal deoxynucleotidyl transferase (TDT), then the reminders of dUTP after experimental reaction, as indicator of quantity of DNA degradation, were detected. RESULTS: The reminders of dUTP were decreasing along with the postmortem interval. CONCLUSION Postmortem DNA degradation may be used in postmortem interval judgment.
Animals ; Cell Nucleus/metabolism* ; Clinical Enzyme Tests/methods* ; DNA/metabolism* ; DNA Nucleotidylexotransferase/metabolism* ; Kidney/metabolism* ; Liver/metabolism* ; Male ; Postmortem Changes ; Pyrophosphatases/metabolism* ; Rats ; Rats, Sprague-Dawley ; Spectrophotometry, Ultraviolet ; Spleen/metabolism* ; Time Factors

BACKGROUND/AIMS: We investigated the time of onset of antituberculous drug-induced hepatotoxicity (ADIH) and related characteristics. METHODS: Adult patients (n = 1,031) treated with first-line antituberculous drugs between February 2009 and January 2013 were enrolled. RESULTS: Of the 1,031 patients, 108 patients (10.5%) developed ADIH a mean of 39.6 +/- 43.7 days after treatment initiation. Twenty-eight patients (25.9%) developed ADIH within 7 days, 73 (67.6%) within 30 days, and the rest after 30 days. The < or = 30-day group was characterized by higher peak alanine aminotransferase (ALT) level and a high proportion of patients with maintenance of first-line antituberculous drugs compared to the > 30-day group. In subgroup analysis, the < or = 7-day group was characterized by higher baseline aspartate aminotransferase and ALT, high proportion of patients with maintenance of first-line antituberculous drugs, and high proportion of patients with extrapulmonary tuberculosis compared to patients with ADIH that developed beyond 7 days. In multivariate analysis, serum ALT > 40 IU/L (odds ratio [OR], 2.995; 95% confidence interval [CI], 1.580 to 5.680; p = 0.001) and presence of anti-hepatitis C virus (OR, 4.204; 95% CI, 1.822 to 9.700, p = 0.001) were independent risk factors for development of ADIH. CONCLUSIONS: Approximately 70% of the cases of ADIH occurred in the first month of antituberculous treatment, and were associated with continuation of the first-line drug regimen.
Adult ; Aged ; Alanine Transaminase/blood ; Antitubercular Agents/*adverse effects ; Aspartate Aminotransferases/blood ; Biomarkers/blood ; Chemical and Drug Induced Liver Injury/blood/*diagnosis/etiology ; Chi-Square Distribution ; Clinical Enzyme Tests ; Coinfection ; Drug Monitoring/*methods ; Drug Therapy, Combination ; Early Diagnosis ; Female ; Hepatitis/complications/diagnosis ; Humans ; *Liver Function Tests ; Logistic Models ; Male ; Middle Aged ; Multivariate Analysis ; Odds Ratio ; Predictive Value of Tests ; Retrospective Studies ; Risk Factors ; Time Factors

OBJECTIVETo analyze and summarize the characteristics of glycogen storage disease type II (Pompe disease) patients according to the clinical description and prognosis.

METHODSeventeen Chinese patients diagnosed by acid alpha-glucosidase (GAA) enzyme activity test were reviewed. Clinical data tables were designed. Interviews were made via phone calls. Information was collected to reach the objective.

RESULTFour of 17 patients diagnosed by acid alpha-glucosidase are infantile-onset, symptoms started between 2 to 6 months after birth with increased serum creatine kinase and cardiac problems, with or without respiratory concerns. Other 13 patients were later-onset cases, and their symptoms started between 2 to 22 years of age with increased serum creatine kinase. Eleven later-onset patients started with muscle weakness, 2 patients developed respiratory insufficiency, 2 patients showed scoliosis, and 1 patient expressed increased serum creatine kinase with abnormal liver function. Just 3 of the later-onset patients were treated with mechanical ventilator and adjuvant therapy, others were not. All patients' acid alpha-glucosidase (GAA) enzyme activity analysis showed lower than 10% of normal. Fourteen patients were tested by muscle biopsy pathology, and 9 of them progressed to glycogen storage disease type II; 10 patients received genetic analysis, and 6 of them had two mutations which cause the disorder. Twelve of the 17 patients were interviewed successfully. In 3 of the infant-onset patients the disease resulted in death from respiratory failure, and 1 is still alive at the age of 1 year and 7 months. In 4 of 8 later-onset patients the disease resulted in death from respiratory failure between 3 to 5 years after onset of symptoms. Three of 4 survivors had increased muscle weakness, and 1 patient kept alive with ventilator without any changes. Seven of 12 interviewed patients died, the mortality rate was 58.3%.

CONCLUSIONGlycogen storage disease type II (Pompe disease) present differently in the clinic. Infant-onset Pompe disease is mainly characterized by generalized muscle weakness and obvious cardiac involvement. It's a dangerous disease, with high mortality rate. Later-onset Pompe disease is characterized by chronic proximal muscle weakness and respiratory insufficiency. GAA enzyme activity analysis, muscle biopsy and genetic analysis used to support the diagnosis of Pompe disease. Prognosis of the disease depends on age of onset and respiratory muscle involvement.

Adolescent ; Biopsy ; Cardiomyopathies ; epidemiology ; etiology ; Child ; Child, Preschool ; Clinical Enzyme Tests ; Creatine Kinase ; blood ; Female ; Follow-Up Studies ; Glucan 1,4-alpha-Glucosidase ; genetics ; metabolism ; Glycogen Storage Disease Type II ; diagnosis ; genetics ; pathology ; Humans ; Infant ; Male ; Muscle Weakness ; epidemiology ; etiology ; Prognosis ; Respiratory Insufficiency ; epidemiology ; Retrospective Studies ; Young Adult

BACKGROUND/AIMS: Pandemic influenza A (H1N1) virus infection presents with variable severity. However, little is known about clinical predictors of disease severity. We studied the clinical predictors of severe pandemic H1N1 pneumonia and their correlation with radiological findings. METHODS: We reviewed medical and radiological records of adults with pandemic H1N1 pneumonia. After classification of patients into severe and non-severe groups, the following data were evaluated: demographic data, pneumonia severity index (PSI), CURB65, risk factors, time to first dose of antiviral medication, routine laboratory data, clinical outcome, and radiological characteristics. RESULTS: Of 37 patients with pandemic H1N1 pneumonia, 12 and 25 were assigned to the severe and non-severe groups, respectively. PSI score, serum aspartate aminotransferase (AST), alanine aminotransferase (ALT), and lactate dyhydrogenase (LDH) levels were higher in the severe group than in the non-severe group (p = 0.035, 0.0003, 0.0023, and 0.0002, respectively). AST, ALT, and LDH levels were positively correlated with the radiological findings (p < 0.0001, 0.0003, and < 0.0001, respectively) and with the number of involved lobes (p = 0.663, 0.0134, and 0.0019, respectively). The most common finding on high resolution computed tomography (HRCT) scans was ground-glass attenuation with consolidation (n = 22, 60%), which had a predominantly patchy distribution (n = 31). CONCLUSIONS: We demonstrated a positive correlation between clinical findings, such as serum AST, ALT, and LDH levels, and radiological findings. A combination of clinical and HRCT indicators would be useful in predicting the clinical outcome of pandemic H1N1 pneumonia.
Adolescent ; Adult ; Aged ; Alanine Transaminase/blood ; Antiviral Agents/therapeutic use ; Aspartate Aminotransferases/blood ; Biological Markers/blood ; Chi-Square Distribution ; Clinical Enzyme Tests ; Female ; Humans ; Influenza A Virus, H1N1 Subtype/*pathogenicity ; Influenza, Human/*diagnosis/mortality/radiography/therapy/virology ; L-Lactate Dehydrogenase/blood ; Lung/*radiography/virology ; Male ; Middle Aged ; *Pandemics ; Pneumonia, Viral/*diagnosis/mortality/radiography/therapy/virology ; Predictive Value of Tests ; Prognosis ; Republic of Korea/epidemiology ; Respiration, Artificial ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Severity of Illness Index ; *Tomography, X-Ray Computed ; Young Adult