Prenatal Diagnosis Of Tay-Sachs Disease

OBJECTIVE: To emphasize the efficacy and safety of the prenatal invasive procedures for prenatal diagnosis of Tay-Sachs disease. STUDY DESIGN: In this case series, the results of the prenatal invasive procedures that were performed for diagnosing Tay-Sachs disease in 8 patients between 2000 and 2008 are reported. The samples were obtained by chorionic villus sampling or by cordocentesis. Total hexosaminidase level and the percentage of isoenzyme ß-Hexosaminidase A were measured in fetal samples. RESULTS: There were 8 patients in diagnosed prenatatlly between 2000-2008. Sufficient material for enzyme analysis was obtained without any complications. Total hexosaminidase levels and the percentage of hexosaminidase were in normal limits in all fetal samples. All pregnancies ended up with uneventful term births. CONCLUSION: Tay-Sachs disease can be diagnosed prenatally by measuring hexosaminidase enzyme activity in fetal tissue samples with an acceptable complication rate. Prenatal diagnosis should be offered to families who have affected siblings with Tay-Sachs disease

Determination of intestinal enzyme activities during infancy period

Giriş: Barsak enzim aktiviteleri barsak florasında yaşayan bakterilerin varlığını ve metabolik aktivitelerini yansıtan dolaylı belirteçlerdir. Çalışmanın amacı, dışkıda beta (β)-glukuronidaz, β-glukozidaz ve üreaz enzimlerinin aktivite düzeylerini 6 haftalık ve 8 aylık bebeklerde ölçmek ve düzeyleri etkileyen faktörleri belirlemektir. Gereç ve Yöntem: Çalışmaya 100 sağlıklı 6 haftalık bebekler dahil edildi. Tüm bebeklerden dışkı örneği alındı. Dışkı örneklerinin 17’si partikülsüz olduğu için değerlendirme dışı bırakıldı. Çalışmaya dahil edilen bebeklerin 35’inden 8. ayda ikinci dışkı örneği alındı. Bebeklerin 25’inin hem 6 haftalık hem de 8 aylık dışkı örnekleri vardı. Alınan dışkı örneklerinde üreaz, β-glukuronidaz ve β-glukozidaz enzim aktiviteleri (nmol/dk-1/mg-protein-1) ölçüldü. Bulgular: Tekrarlanan ölçümlerde üreaz ve β-glukuronidaz düzeyleri zaman içinde azalırken, β-glukozidaz düzeyleri artmaktaydı. Prematüre doğan bebeklerin 8. ay β-glukuronidaz enzim aktivitesi daha yüksekti. Anne sütünü ilk 1 saatte almaya başlayan ve biberon kullanan bebeklerde altıncı haftadaki üreaz aktivitesi daha düşüktü. Sadece anne sütü alma durumu barsak enzim aktivitesini etkilemedi. Sonuç: İntestinal enzim aktiviteleri süt çocukluğu döneminde yapılanma aşamasında olan mikrofloranın fonksiyonelliğini dolaylı olarak göstermesi açısından önemlidir. Bununla birlikte enzim aktivitelerinin yaşa bağlı olarak değişkenlik göstermesi nedeniyle düzeyini etkileyen faktörlerin tanımlanması güçleşmektedir.Introduction: Intestinal enzyme activities are indirect indicators that reflect the existence and metabolic activity of bacteria living in the intestinal flora. The purpose of the study was to measure fecal beta (β)-glucuronidase, β-glucosidase and urease enzyme activities and to determine the factors that affect levels in 6 week old and 8 month old babies. Materials and Methods: The study comprised 100 healthy infants at 6 weeks of age. Feces samples were collected from all infants. However, 17 of the feces samples were not included due to the lack of particles in the feces. The same samples were also taken from 35 infants at 8 months of age. Twenty-five of the infants had given feces samples at both 6 weeks and 8 months of age. Urease, β-glucuronidase and β-glucosidase enzyme activities (nmol/min-1/mg-protein-1) were measured. Results: In repeated measures, the levels of β-glucuronidase and urease declined over time and β-glucosidase levels increased. At 8 months of age, higher β-glucuronidase levels were obtained in premature infants. At 6 weeks of age, lower levels of urease were measured in babies who were started breastfeeding at the first hour of life and were bottle-fed. Exclusive breastfeeding had no influence on the intestinal enzyme activities. Conclusions: In early infancy period when microflora is structured, intestinal enzyme activities are important that show indirectly functionality of the microflora. However, it is difficult to highlight what affects the levels of intestinal enzymes because activities vary according to the age

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of total hexosaminidase activity using fluorogenic synthetic substrate 4-methylumbelliferyl beta-D-glucosaminide. RESULTS: 7 fetuses were found to be affected and the pregnancies were terminated. The remaining seven fetuses were found to be normal. The diagnosis were confirmed after delivery by enzyme analysis of leucocytes isolated from peripheric blood. CONCLUSION: Chorionic villus sampling (CVS) is a safe and accurate method for the first trimester prenatal diagnosis of various genetical disorders if the amount of the chorionic villi taken is sufficient for enzyme analysis and if it is well separated from maternal blood or decidua. Hexosaminidase (Hex) assay using fluorogenic substrate is useful for specific prenatal diagnosis of SD

Why are they having infant colic? A nested case-control study

P>Yalcin SS, Orun E, Mutlu B, Madenda Y, Sinici I, Dursun A, Ozkara HA, Ustunyurt Z, Kutluk S, Yurdakok K. Why are they having infant colic? A nested case-control study. Paediatric and Perinatal Epidemiology 2010; 24: 584-596

Increased hexosaminidase activity in antipsychotic-induced extrapyramidal side effects: Possible association with higher occurrence in bipolar disorder patients

Dystonic movements and Parkinsonism are frequently seen in gangliosidoses and these conditions have been reported to modify dopaminergic plasticity. We investigated whether the activity of hexosaminidase, a type-two ganglioside (GM2) degrading enzyme, correlates with drug-induced extrapyramidal system (EPS) side effects in psychiatric patients. We compared hexosaminidase activity in the lymphocytes of 29 EPS-positive patients, 13 EPS-negative patients, and 30 healthy volunteers. The activities of A and B isoforms of hexosaminidase were higher in EPS-positive patients than EPS-negative patients and healthy controls. Multivariate analysis suggested an interaction with increased B isoform activity and EPS side effects in female bipolar disorder patients. Higher levels of hexosaminidase enzyme activity may explain the frequent occurrence of antipsychotic-induced extrapyramidal side effects in mood disorder patients. (C) 2008 Elsevier Inc. All rights reserved

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Objective: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder associated with ADA2 mutations. We aimed to investigate the characteristics and ADA2 enzyme activities of patients with DADA2 compared to non-DADA2 patients. Methods: This is a descriptive study of 24 patients with DADA2 who were admitted to the Adult and Pediatric Rheumatology, Pediatric Haematology, and Pediatric Immunology Departments of Hacettepe University. All ADA2 exons were screened by Sanger sequencing. Serum ADA2 enzyme activity was measured by modified spectrophotometric method. Results: Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2). Fourteen PAN-like DADA2 patients did not have the typical thrombocytosis seen in classic PAN. Inflammatory attacks were evident only in Group 1 patients. Serum ADA2 activity was low in all patients with DADA2 except one, who was tested after hematopoietic stem cell transplantation. There was no significant difference in ADA2 activities between PAN-like and DBA-like patients. In DADA2 patients with one ADA2 mutation, serum ADA2 activities were as low as those of patients with homozygote DADA2. ADA2 activities were normal in non-DADA2 patients. ADA2 mutations were affecting the dimerization domain in Group 1 patients and the catalytic domain in Group 2 patients. Conclusion: We suggest assessing ADA2 activity along with genetic analysis because there are patients with one ADA2 mutation and absent enzyme activity. Our data suggest a possible genotype-phenotype correlation in which dimerization domain mutations are associated with PAN-like phenotype, and catalytic domain mutations are associated with hematological manifestations.PubMe

Comparison Of Hcmv Ie And Ef-1 Alpha Promoters For The Stable Expression Of Beta-Subunit Of Hexosaminidase In Cho Cell Lines

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