Enzyme immunoassay of beta-hexosaminidase A and B in serum: carrier detection of GM2-gangliosidoses, and equivalence of enzyme activity and enzyme protein reactivity

1993 ◽  
Vol 39 (7) ◽  
pp. 1412-1415 ◽  
Author(s):  
A Isaksson ◽  
B Hultberg ◽  
P Masson ◽  
E Landels ◽  
A Fensom
Keyword(s):  
Enzyme Activity ◽  
Enzyme Immunoassay ◽  
Sandhoff Disease ◽  
Control Group ◽  
Enzyme Protein ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
The Mean ◽  
Gm2 Gangliosidoses ◽  
Apparently Healthy

Abstract beta-Hexosaminidase (Hex; EC 3.2.1.52) isoenzymes A and B were analyzed in sera from a control group of 22 apparently healthy subjects, 13 obligate carriers of Tay-Sachs disease (TSD), 10 obligate carriers of Sandhoff disease (SHD), and 4 affected TSD patients by enzyme immunoassay methods based on enzyme activity. No Hex A activity was detected in the sera of patients with TSD. The activities of Hex A in the obligate carriers of TSD and SHD tended to be lower (nonsignificantly) than in the control group. Hex B activities tended to be higher in TSD patients as well as in carriers of TSD, although the mean activities did not significantly differ from the corresponding mean for the control group. However, Hex B activities were decreased in the carriers of SHD in comparison with the other groups. Sera from 900 postmenopausal women, all of age 55 years, were also analyzed for Hex isoenzymes; the results indicated a carrier frequency of about 1 in 200 for both TSD and SHD. We also compared the enzyme immunoassay method based on enzyme activity with one based on the antigenic (enzyme protein) reactivity alone. Because both methods yielded similar information, we conclude that no significant amounts of inactive enzyme protein are present in the circulation.

Automated Determination of Serum Hexosaminidase A by pH Inactivation for Detection of Tay-Sachs Disease Heterozygotes

1974 ◽  
Vol 20 (5) ◽  
pp. 538-543 ◽  
Author(s):  
Abraham Saifer ◽  
Guta Perle
Keyword(s):  
Automated System ◽  
Ashkenazi Jewish Population ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Ph Inactivation ◽  
The Mean ◽  
Manual Test ◽  
Normal Adults ◽  
Automated Determination

Abstract We have automated a manual test for detection of heterozygotes of Tay-Sachs disease by assay of hexosaminidase A in serum, based on pH inactivation [Clin. Chim. Acta 43, 417 (1973)]. The same manifold is used both for the total hexosaminidase and pH-inactivation (hexosaminidase B) procedures. Automation expedites mass screening of the Ashkenazi Jewish population for carriers of the Tay-Sachs gene (prevalence rate, 1:30), because 100 or more tests can be performed daily. The mean percentage value and range (±2 SD) of hexosaminidase A for normal adults is 68.6 (58-79) and for carriers is 48.8 (39-59) with the automated pH-inactivation procedure. "Presumed carriers" (<53% hexosaminidase A) and individuals in the uncertain range (53 to 58%) should be retested by using leukocytes, to avoid the effect of certain physical ailments, before being labeled as carriers. The same automated system used for this assay can also be used to detect carriers of at least seven other sphingolipidoses for which artificial fluorogenic substrates are available.

scholarly journals Sonographic Assessment of Heel Pad Thickness in Patients With Poorly Controlled Diabetes

2019 ◽  
Vol 35 (5) ◽  
pp. 374-379 ◽  
Author(s):  
Benjamin Effiong Udoh ◽  
Bassey Eyo Archibong ◽  
Akpama Egwu Egong
Keyword(s):  
Lipid Profile ◽  
Healthy Subjects ◽  
Biochemical Parameters ◽  
Hemoglobin A1c ◽  
Mean Value ◽  
Control Group ◽  
Diabetic Patients ◽  
Heel Pad ◽  
The Mean ◽  
Apparently Healthy

The aim was to compare the heel pad thickness (HPT) in diabetic patients with high biochemical parameters (fasting blood sugar [FBS], hemoglobin A1c [HbA1c], and lipid profile) with nondiabetic counterparts. A total of 438 subjects made up of 216 diabetics with high biochemical parameters (poorly controlled) and 222 apparently healthy subjects were recruited. The HPT, FBS level, HbA1c values and lipid profile, and duration of diabetes mellitus were assessed. Results showed that the mean HPT was 13.33 ± 1.29 mm in the control subjects and 16.79 ± 1.84 mm in diabetics. The HPT among diabetics differed significantly from the control group ( P < .05). The mean value of HbA1c in the control group was 5.4 ± 1.3 compared to diabetics with values of 8.53 ± 2.1. The values of HbA1c among diabetics were significantly higher than that of the control group ( P < .05). HPT had a significant linear relationship with HbA1c among the diabetic subjects ( r = 0.42, P < .05).

Synchronization of Estrus by ‘Buck Effect’ and PGF2α Treatment in Surti Does

2018 ◽  
Vol 13 (03) ◽  
Author(s):  
M. M. Chaudhary ◽  
C. T. Khasatiya ◽  
N. F. Chaudhari ◽  
K. K. Tyagi ◽  
V. B. Kharadi ◽  
...  
Keyword(s):  
Control Group ◽  
Sexually Active ◽  
Estrus Synchronization ◽  
Time Intervals ◽  
Treatment Groups ◽  
Double Injection ◽  
Significant Difference ◽  
The Mean ◽  
Mean Time ◽  
Apparently Healthy

This investigation was aimed to study the influence of buck and PGF2α treatment on estrus synchronization in Surti does. Apparently healthy non-pregnant Surti does (n=18) were identified from the flock by Ultrasonography. They were evenly divided into 3 groups, 6 does in each group. The does of Treatment T1 group were teased with a sexually-active-apronized buck; the does of Treatment T2 group were treated with PGF2α, i.e., Inj. Lutalyse® @ 7.5 mg/doe IM twice, i.e. on day 0th and 11th, while the does of Control group T3 were kept without any treatment. The behavioural estrus was successfully synchronized by double injection of PGF2α at 11 days apart, as well as by buck effect in T2 and T1 groups, respectively. The induction of estrus was observed cent per cent in all the groups within one month. The mean time intervals between start of treatment and onset of estrus differed significantly between T1 (5.83±2.20 d) and T3 (14.67±2.76 d) groups. However, the mean duration of estrus was 29.83±0.91, 27.50±1.23 and 28.67±1.28 hrs and the mean number of services per conception was found 1.33±0.33, 1.50±0.50 and 1.33±0.33 for T1, T2 and T3 groups of Surti does, respectively, none differ significantly (p>0.05) between the groups. There was no significant difference in conception rates at first service amongst the groups (83.33%). The 17 does among 18 does (94.44 %) from all the three groups conceived within three services, irrespective of treatment groups. It was found that the buck effect appeared to be as effective as conventional PGF2α treatment in Surti does for synchronization of estrus

scholarly journals Reproductive Pathological Changes Associated with Experimental SubchronicCorynebacterium pseudotuberculosisInfection in Nonpregnant Boer Does

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
A. M. Othman ◽  
Y. Abba ◽  
F. F. A. Jesse ◽  
Y. M. Ilyasu ◽  
A. A. Saharee ◽  
...  
Keyword(s):  
Lymph Nodes ◽  
Inflammatory Cell ◽  
Healthy Adult ◽  
Histopathological Examination ◽  
Reproductive Organs ◽  
Control Group ◽  
Intranasal Route ◽  
The Mean ◽  
And Control ◽  
Apparently Healthy

Corynebacterium pseudotuberculosiscauses caseous lymphadenitis (CLA), which is a contagious and chronic disease in sheep and goats. In order to assess the histopathological changes observed in the reproductive organs of nonpregnant does infected with the bacteria, 20 apparently healthy adult Boer does were divided into four inoculation groups, intradermal, intranasal, oral, and control, consisting of five goats each. Excluding the control group, which was unexposed, other does were inoculated with 107 CFU/1 mL of liveC. pseudotuberculosisthrough the various routes stated above.Thirty days after infection, the ovaries, uterus, and iliac lymph nodes were collected for bacterial recovery and molecular detection, as well as histopathological examination. The mean changes in necrosis, congestion, inflammatory cell infiltration, and oedema varied in severity among the ovaries, uterus, and iliac lymph nodes following different inoculation routes. Overall, the intranasal route of inoculation showed more severe (p<0.05) lesions in all the organs examined. The findings of this study have shown thatC. pseudotuberculosiscould predispose to infertility resulting from pathological lesions in the uterus and ovaries of does.

scholarly journals Measurement and purification of Alanine aminotransferase (ALT) enzyme activity in patients with celiac disease

2017 ◽  
Vol 14 (3) ◽  
pp. 557-563
Author(s):  
Baghdad Science Journal
Keyword(s):  
Enzyme Activity ◽  
Celiac Disease ◽  
Alanine Aminotransferase ◽  
Mean Value ◽  
Control Group ◽  
Serum Samples ◽  
Healthy Group ◽  
The Mean ◽  
Age Range ◽  
Alt Activity

Celiac disease (CD) is the most common genetically - based disease in correlation with food intolerance. The aim of this study is to measure the activity of ALT enzyme and purify enzyme from sera women with celiac disease. Alanine aminotransferase (ALT) activity has been assayed in (30) women serum samples with celiac disease, age range between (20-40) year and (30) serum of healthy women as control group, age range between (22-38) year. In the present study, the mean value of ALT activity was significantly higher in patients with celiac disease than healthy group (p

scholarly journals Tay-Sachs disease

2019 ◽  
Vol 67 (3) ◽  
pp. 323-329
Author(s):  
Carlos Andrés Gualdrón-Frías ◽  
Laura Tatiana Calderón-Nossa
Keyword(s):  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Clinical Manifestations ◽  
Lysosomal Storage ◽  
Adequate Treatment ◽  
Autosomal Recessive Disorders ◽  
Tay Sachs Disease ◽  
Mesh Terms ◽  
Hexosaminidase A ◽  
Gm2 Gangliosidoses

Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three forms.Objective: To perform a review of the state of the art on TSD describing its definition, epidemiology, etiology, physiopathology, clinical manifestations and news in diagnosis and treatment.Materials and methods: A literature search was carried out in PubMed using the MeSH terms “Tay-Sachs Disease”.Results: 1 233 results were retrieved in total, of which 53 articles were selected. TSD is caused by the deficiency of the lysosomal enzyme β-hexosaminidase A (HexA), and is characterized by neurodevelopmental regression, hypotonia, hyperacusis and cherry-red spots in the macula. Research on molecular pathogenesis and the development of possible treatments has been limited, consequently there is no treatment established to date.Conclusion: TSD is an autosomal recessive neurodegenerative disorder. Death usually occurs before the age of five. More research and studies on this type of gangliosidosis are needed in order to find an adequate treatment.

scholarly journals Hematological and Biochemical Profile of Patients Infected with Schistosoma mansoni in Comparison with Apparently Healthy Individuals at Sanja Town, Northwest Ethiopia: A Cross-Sectional Study

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Nega Dessie ◽  
Wossenseged Lema ◽  
Mulugeta Aemero
Keyword(s):  
Blood Cell ◽  
Schistosoma Mansoni ◽  
Parasite Density ◽  
Northwest Ethiopia ◽  
Control Group ◽  
Mean Corpuscular Hemoglobin ◽  
Cross Sectional ◽  
Biochemical Profiles ◽  
The Mean ◽  
Apparently Healthy

Background. Schistosomiasis is a parasitic disease that resides in the vascular system of vertebrates, causing a chronic, debilitating disease that affects more than 200 million people and 800,000 deaths per year in over 70 countries. This parasite causes liver dysfunction and disorders normal hematological and biochemical profiles in addition to portal vein hypertension syndrome, ascites, and liver fibrosis. The general objective of the current study is to assess hematological and biochemical profiles of patients infected with Schistosoma mansoni in comparison with apparently healthy individuals (control group) in Sanja town, northwest Ethiopia. Method. A comparative cross-sectional study was conducted from February to April 2019 among microscopically confirmed S. mansoni-infected patients attending Sanja hospital and apparently healthy (control group) from Sanja town community. A total of 220 participants, 110 from the S. mansoni-infected and 110 from the control group, were enrolled using convenient sampling technique. Three grams of stool and six milliliters of blood samples were collected from each study participant. Stool samples were processed using the Kato–Katz technique to determine infection and count parasite density. The blood sample was processed for the analysis of hematological and biochemical profiles using Cell Dyn 1800 (Abbot Hematology, IL, USA) and iChem535 chemistry analyzer, respectively. All data were analyzed using SPSS version 20, and P value less than 0.05 was taken as statistically significant. Results. This study showed that the mean values of serum alanine aminotransferase, aspartate aminotransferase, total protein, total cholesterol, hemoglobin, mean corpuscular hemoglobin concentration, and total white blood cell count were different in the Schistosoma mansoni-positive group as compared with the control group with statistically significant value (P≤0.05). However, the mean values of blood glucose, red blood cell, packed cell volume, and granulocyte count difference were not statistically significant (P≥0.05). The mean value of hemoglobin, red blood cells, blood glucose, mean corpuscular hemoglobin concentration, total protein, total cholesterol, and total white blood cell was significantly dropped in the moderate and heavy S. mansoni parasitic load patients as compared with the control group and light S. mansoni parasite density patients. However, the mean of AST and ALT progressively elevated as the burden of S. mansoni increased. Conclusion. Most hematological and biochemical profiles were significantly lower in the Schistosoma mansoni-positive group as compared with the control group. Most hematological and biochemical profiles decline significantly as the parasite density increased. Hence, with Schistosoma treatment, supportive treatment against hematological and biochemical disorders is recommended.

Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease

1993 ◽  
Vol 39 (9) ◽  
pp. 1811-1814 ◽  
Author(s):  
E M Prence ◽  
M R Natowicz ◽  
I Zalewski
Keyword(s):  
Autosomal Recessive ◽  
Sandhoff Disease ◽  
Carrier Testing ◽  
Heat Inactivation ◽  
Reciprocal Relation ◽  
Specific Substrate ◽  
Critical Determinant ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Sample Amount

Abstract Tay-Sachs disease (TSD), an autosomal recessive neurodegenerative condition, is the result of a deficiency of beta-hexosaminidase A (hex A). Heterozygotic individuals are screened by analysis for hex A and hex B activities; the percent of hex A is the critical determinant of carrier vs noncarrier status. Most laboratories use a heat-inactivation assay that exploits the differential thermolability of the isoenzymes. However, we have found a reciprocal relation between the apparent leukocyte hex A activity and the amount of the sample used in the assay; i.e., a significant increase in the percent of hex A activity with decreasing amounts of sample. Three sets of data indicate that this phenomenon was caused by an effect on the hex B isoenzyme and not on hex A. This variation in hex A activity with sample amount was not observed when a hex A-specific substrate was used. This phenomenon was also not seen in assays of leukocytes from carriers for Sandhoff disease, a condition associated with a reduction in the amount of hex B. Finally, when leukocytes from a TSD homozygote, containing almost no hex A, were analyzed, marked increases in the percent of hex A were observed with decreasing sample concentrations. These data indicate that misdiagnoses could result from variations in sample concentrations used for TSD carrier testing and support the view that the leukocyte concentrations used for these assays should be standardized.

scholarly journals Tay-Sachs disease: a novel mutation from India

2018 ◽  
Vol 11 (1) ◽  
pp. e225916 ◽  
Author(s):  
Daisy Khera ◽  
Joseph John ◽  
Kuldeep Singh ◽  
Mohammed Faruq
Keyword(s):  
Enzyme Activity ◽  
Novel Mutation ◽  
Wide Spectrum ◽  
Lysosomal Storage ◽  
Lysosomal Hydrolase ◽  
Tay Sachs Disease ◽  
Hexosaminidase A ◽  
Cherry Red Spot ◽  
Novel Variation ◽  
Storage Disorders

Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old child who presented to us with neurodevelopment regression, seizures and cherry red spot in both eyes. His hexosaminidase A enzyme activity was reduced and genetic testing revealed a homozygous novel variation in HEXA (hexosaminidase A) gene in the DNA sample of the patient.

scholarly journals Evaluation of Acute Painful Episodes with Foetal Hemoglobin Level and Other Haematological Parameters in Sickle Cell Patients in Abuja Nigeria

2019 ◽  
pp. 1-5
Author(s):  
O. Chinwe Okeke ◽  
O. Ernest Ukaejiofo ◽  
E. Nnodu Obiageli ◽  
D. Ezigbo Eyiuche ◽  
C. Okeke Chinedu
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anaemia ◽  
Haematological Parameters ◽  
Severe Illness ◽  
Control Group ◽  
The Mean ◽  
Hb Concentration ◽  
The Relationship ◽  
Painful Episode ◽  
Apparently Healthy

Introduction: Heterogeneity in sickle cell anaemia manifestations ranges from near asymptomatic cases to severe illness.  Objective: This study determined the relationship between foetal haemoglobin F level, other haematological parameters and acute painful episode score of sickle cell disease patients in FCT Abuja Nigeria. Methods: 60 Sickle cell patients were selected for the study. 20 severe crises, 20 non-severe crisis SS were enrolled in the study. Control group comprised 20 apparently healthy haemoglobin AA individuals. Data were analysed descriptively. Results: Hb F level increased significantly in non-severe crisis sickle cell anaemia (7.12%± 3.6) and severe crisis (5.30%±2.3) groups, compared to the control group (0.32±1.8). This trend was also observed in RDW, MCHC and MCV. The mean Hb concentration and haematocrit (Hct) were significantly lower for both non- severe crisis and severe crisis SCA groups. There was no significant correlation between HbF and any of the haematological parameters in both non severe crisis and severe crisis groups. Patients with SCA had higher levels of HbF than matched controls. HbF had no correlation with any of the haematological parameters in both severe and non-severe SCA groups studied. Conclusion: Further studies should focus on environmental factors contributing to this variability.

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