Caracterización clínica, bioquímica y molecular de una paciente colombiana con enfermedad de Tay-Sachs / Clinical, biochemical, and molecular findings in a Colombian patient with Tay-Sachs disease

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The salivary ß-HEX A% index as an excellent marker of periodontitis in smoking alcohol-dependent persons.

BACKGROUND: Severe periodontitis leading to tooth loss is found in 5-15% of most populations worldwide. AIM: The applicability of salivary ß -hexosaminidase (ß-HEX A%, percentage of ß-HEX A isoenzyme to total ß-HEX) and ß-HEX B% (ß-HEX B/ß-HEX) indexes was investigated as a possible marker of periodontitis. METHODS: Thirty three alcohol-dependent smokers (AS) and 32 healthy controls (C) were enrolled in the study. The activity of ß-HEX was measured spectrophotometrically. RESULTS: ß-HEX A% was significantly higher and ß-HEX B% was lower in AS than in C group. We found a significant correlation between ß-HEX A% and gingival index (GI) and an inverse correlation between ß-HEX A% and salivary flow (SF), in all groups. Salivary ß-HEX A% index in smoking alcoholics at 0.23 had excellent sensitivity (96%) and specificity (91%); the AUC for ß-HEX A% was high (0.937). There were no correlations between amount/duration-time of alcohol drinking/smoking and ß-HEX A% or ß-HEX B%. We found significant correlations between the time period of denture wearing and GI, papilla bleeding index (PBI), and decayed missing filled teeth index (DMFT) and between GI and the amount of smoked cigarettes per day. CONCLUSION: Bad periodontal state was most likely due to the nicotine dependence. Salivary ß-HEX A% is a promising excellent marker for the diagnosis of periodontitis.

The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases.

This study was designed to evaluate the effect of mycoplasma contamination on acid hydrolase activity and the action of the mycoplasma removal agent (MRA), in cultures of human fibroblasts from individuals with lysosomal diseases. For this purpose, we measured the activity of the b-galactosidase, arylsulphatase B (ASB), hexosaminidase A and a-glucosidase enzymes. The activity of the above mentioned enzymes in fibroblasts contaminated by mycoplasma was measured before and after the addition of the MRA. The results were then compared to the enzymatic activity in contamination-free cultures. Only the ASB enzyme showed significant alteration in activity both in the presence of mycoplasma and MRA. The remaining enzymes did not suffer significant interference by the presence of the two agents. Of the four enzymes tested, three did not suffer significant alterations by the presence of the mycoplasma nor from the MRA. However, the activity measured in the ASB enzyme increased significantly in the presence of mycoplasma and MRA and could lead to a doubtful diagnosis. Therefore, we suggest that contamination should be prevented by using aseptic techniques as well as the MRA in those fibroblast cultures that cannot be discarded.

N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.

BACKGROUND/AIMS: Evaluation of N-acetyl-beta-D-hexosaminidase (HEX), and its isoenzymes A (HEX A) and B (HEX B) activity in blood serum and urine as potential markers of colorectal cancer. METHODOLOGY: The study was performed in blood serum and urine of 32 patients with adenocarcinoma, 6 with adenocarcinoma mucinosum of the colon, and 20 healthy people. The activity of HEX, HEX A and HEX B was determined in blood serum and urine by spectrophotometric method of Marciniak et al. The concentration of CEA was determined in blood serum by immunoenzymatic method (MEIA). The concentration of protein was assessed by the Lowry method, whereas the concentration of creatinine in urine by the Jaffe method (without deproteinization). RESULTS: A significant increase in the concentration of HEX, HEX A and HEX B activity was proved in serum and urine of patients with colon adenocarcinoma. In patients with colon adenocarcinoma mucinosum, the higher activity of HEX was revealed in blood serum compared to healthy people, and the significantly higher activity of HEX and HEX B expressed as pKat/mg of creatinine, was found in urine. We observe a significant increase in the activity of HEX, HEX A and HEX B expressed in pKat/mg of creatinine was found in urine of patients bearing tumor of diameter 6.0-7.0 cm in comparison to patients with tumor of diameter 4.0-5.0 cm. CONCLUSIONS: The present study results suggest that determination of HEX, HEX A and HEX B activity in blood serum and urine may be used to detect colon cancer in its early stages. However, the use of HEX, HEX A and HEX B activity in oncological diagnostics requires further studies on a larger group of patients.