ABSTRACT
Human induced pluripotent stem cells (hiPSCs) enable in vitro high-throughput pharmacological screening assays of diseased tissue. Together with recent genome-wide association studies (GWAS), hiPSCs enable the identification of key mutations for the development of effective treatments based on precise drugs. In concert with CRISPR/Cas9 systems, hiPSC technology can reveal therapeutic targets in metabolic disorders. The ex vivo CRISPR correction of autologous patient-derived hiPSCs has led to the development of replacement cell therapies, providing better patient prognoses.
Subject(s)
Induced Pluripotent Stem Cells , Metabolic Diseases , Animals , Drug Discovery , Epigenesis, Genetic , Humans , Metabolic Diseases/genetics , Polymorphism, Single Nucleotide , Precision MedicineABSTRACT
The aims of this work were to characterize the fermentation process of mezcal from San Luis Potosi, México and identify the yeasts present in the fermentation using molecular culture-dependent methods (RFLP of the 5.8S-ITS and sequencing of the D1/D2 domain) and also by using a culture-independent method (DGGE). The alcoholic fermentations of two separate musts obtained from Agave salmiana were analyzed. Sugar, ethanol and major volatile compounds concentrations were higher in the first fermentation, which shows the importance of having a quality standard for raw materials, particularly in the concentration of fructans, in order to produce fermented Agave salmiana must with similar characteristics. One hundred ninety-two (192) different yeast colonies were identified, from those present on WL agar plates, by RFLP analysis of the ITS1-5.8S- ITS2 from the rRNA gene, with restriction endonucleases, HhaI, HaeIII and HinfI. The identified yeasts were: Saccharomyces cerevisiae, Kluyveromyces marxianus, Pichia kluyveri, Zygosaccharomyces bailii, Clavispora lusitaniae, Torulaspora delbrueckii, Candida ethanolica and Saccharomyces exiguus. These identifications were confirmed by sequencing the D1-D2 region of the 26S rRNA gene. With the PCR-DGGE method, bands corresponding to S. cerevisiae, K. marxianus and T. delbrueckii were clearly detected, confirming the results obtained with classic techniques.
Subject(s)
Agave/microbiology , Alcoholic Beverages/microbiology , Yeasts/isolation & purification , Yeasts/metabolism , Agave/metabolism , DNA, Fungal/genetics , Ethanol/metabolism , Fermentation , Molecular Sequence Data , Mycological Typing Techniques , Polymorphism, Restriction Fragment Length , RNA, Ribosomal/genetics , Yeasts/classification , Yeasts/geneticsABSTRACT
OBJECTIVE: To report a case of Reiter's syndrome, an uncommon complication after intravesical BCG therapy. The etiology, clinical features, diagnostic difficulties and treatment of this condition are discussed. METHODS/RESULTS: A 56-year-old patient with superficial bladder carcinoma developed conjunctivitis, urethritis and arthritis of the right knee and wrist after the fourth BCG instillation. Other pathologies were ruled out by the clinical and laboratory findings (synovial fluid, cultures, HLA B-27, RF, ANA). A progressive clinical improvement was observed when BCG instillation was discontinued and treatment with indomethacin was started. CONCLUSION: Reiter's syndrome is an infrequent complication that is not related with the BCG strain utilized. Early diagnosis of this condition improves response to therapy.
