The INNO-LiPA Mycobacteria kit has been developed for detecting mycobacteria in liquid and solid cultures through amplification of the 16S-23S rRNA mycobacterial spacer region and the use of species-specific probes. The aim of this study was to verify the possible direct use of the kit on clinical samples. The study was performed retrospectively on a total of 129 specimens (104 pulmonary and 25...

Wolman disease is a very rare autosomal recessive genetic disorder. The patients have the typical clinical finding of hepatosplenomegaly but with an abnormal lipid profile high levels total cholesterol (TC), triglycerides, and low-density lipoprotein (LDL-C), low level high-density (HDL-C). We report 1-month-old boy who had atypical TC level, both LDL-C HDL-C. study revealed compound heterozygo...

Fungi are currently recognized as the most preferred sources of lipase due to their ability produce copious amount extracellular with lower production’s and extraction’s costs. Lipase production was carried out in agro wastes formulated-liquid fermentation media at 300C, 130rpm, initial pH 7 for 96 hours using newly isolated LipA gene identified yeasts [Pichia kudriavzevii ENS1 [Accession No: O...

Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive disease that is due to a deficiency in lysosomal acid lipase (LAL) activity, which is coded by the ...

Bull fertility is an important trait in breeding as the semen of one bull can, potentially, be used to perform thousands inseminations. The high number inseminations needed obtain reliable measures from Non-Return Rates oestrus creates difficulties assessing accurately. Improving molecular knowledge seminal properties may provide ways facilitate selection bulls with good quality. In this study,...

BACKGROUND & AIMS We compared treatments for patients with chronic hepatitis B virus (HBV) infection who had an incomplete response to adefovir dipivoxil (ADV). We evaluated a combination of fixed-dose emtricitabine (FTC) and tenofovir disoproxil fumarate (TDF) from the start (early combination) versus TDF as monotherapy. METHODS Patients (n = 105) were randomly assigned to groups given TDF (...

Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.

Lipase is a glycerol ester hydrolase that hydrolyzes esters of triglycerides. This study aimed to isolate, screen and characterize lipolytic fungi with lipA gene from soil environments. Fungi [molds yeasts] were isolated contaminated samples randomly collected Palm oil mills, Abattoirs Automobile servicing workshops in Eleme Obio Akpor local governments Rivers State, Nigeria using standard micr...