N-Acetyl Cysteine and Glutathione in Health and Cancer-Pharmacogenomics, Research, and Clinical Practice: Hypothesis and Review.

Context: Glutathione (GSH) is a major intracellular antioxidant capable of scavenging free radicals and detoxifying electrophiles from endogenous and exogenous sources via the free thiol group. GSH plays an important role in a multiple cellular process, including cell differentiation, proliferation, and apoptosis. Pharmacogenomics has demonstrated its important role as a key element in cellular health. Objective: The study intended to examine the benefits of using GSH pharmacogenomics as a therapy to prevent side effects and interactions with antineoplastic agents in the diagnosis and treatment of malignancies. Design: The research team performed a narrative review using the Google scholar and PubMed electronic databases. Conclusions: In summary, the involvement of GSH in the carcinogenesis and drug resistance of tumor cells is clear and well understood, but further studies, aimed at understanding the GSH-driven molecular pathways, might be crucial to designing new therapeutic strategies to fight cancer progression, overcoming chemoresistance, using in combination with immunotherapies, and preventing or minimizing their negative side effects.

Impact of Intravenous Vitamin C and Endolaser Therapies on a Pediatric Brainstem Glioma Case.

Pediatric cases of a brainstem glioma are one of the most difficult tumors to treat. In children, this type of cancer is perhaps the most dreaded of cancers due to its poor prognosis, yet it remains an area of intense research. In the case presented herein, conventional chemotherapy and radiotherapy treatments were not showing any improvement. The patient was then treated with high-dose intravenous vitamin C (IVC) and endolaser therapy. A significant reduction in glioma's size was achieved in 2 months with this adjunct therapy. These results present a possibility of decreasing brainstem glioma progression with adjuvant IVC and endolaser therapy.

Need for pharmacogenetic studies on the prevalence of MTHFR mutations in Puerto Ricans and Hispanics.

Methylenetetrahydrofolate reductase (MTHFR) mutations have been linked to many diseases. Evidence has been provided to prove that we need to perform pharmacogenetic studies regarding the prevalence of MTHFR mutations and diseases, risks, and the impact on folate requirement in general, but little has been published about Puerto Ricans. A multi center cross-sectional retrospective review study or a prospective pharmacogenetic study of valid genotypes and phenotypes of MTHFR mutations within the different populations of Puerto Ricans and Hispanics are recommended, because differences within them and within the general population are expected.

Role of treatment-modifying MTHFR677C>T and 1298A>C polymorphisms in metformin-treated Puerto Rican patients with type-2 diabetes mellitus and peripheral neuropathy.

BACKGROUND: The study was conducted to investigate potential association between MTHFR genotypes and diabetic peripheral neuropathy (DPN) in Puerto Ricans with type-2 diabetes mellitus (T2DM) treated with metformin. The prevalence of major MTHFR polymorphisms in this cohort was also ascertained. METHODS: DNAs from 89 metformin-treated patients with T2DM and DPN were genotyped using the PCR-based RFLP assay for MTHFR677C>T and 1298A>C polymorphisms. Frequency distributions of these variants in the study cohort were compared to those reported for three reference populations (HapMap project) and controls (400 newborn specimens). Chi-square (or Fischer's exact) tests and odds ratios (OR) were used to assess association with DPN susceptibility risk (patients vs. controls) and biochemical markers (wild types vs. carriers). RESULTS: Sixty-seven percent (67%) of participants carry at least one of these MTHFR polymorphisms. No deviations from Hardy-Weinberg equilibrium were detected. The genotype and allele frequencies showed statistically significant differences between participants and controls (p<0.0001 and p=0.03, respectively). Results suggest that 1298A>C but not 677C>T is associated with DPN susceptibility in this cohort (p=0.018). Different patterns of allelic dissimilarities are observed when comparing our cohort vs. the three parental ancestries. After sorting individuals by their carrier status, no significant associations were observed between these genetic variants (independently or combined) and any of the biochemical markers (HbA1c, folate, vitamin B12, homocysteine). CONCLUSIONS: Prevalence of major MTHFR variants in Puerto Rican patients with T2DM is first time ever reported. The study provides further evidence on the use of this genetic marker as an independent risk factor for DPN.

[Blood derivatives in Puerto Rico: History of the transfusion services and estimate of the consumption of blood units]. / Derivados de sangre en Puerto Rico: Historia de los Servicios de Transfusión y Estimado del Consumo de Unidades de Sangre.

Puerto Rico has eight hospital blood banks and three community blood banks for a population around four million. The Red Cross has been in existence in Puerto Rico since 1893 under the Spanish Governance but it was not until 1907 which became the American Red Cross (ARC). Since then it has been serving Puerto Rico and the U.S. Virgin Islands. About 171.222 blood components, which 45% are of the ARC, are used. There are a number of variations in utilization and a number of factors that are influencing us at the national and local level and that is why collaboration is required in the management plan of blood components at each hospital and implementation of maximum units required for each case of surgery.

Therapeutic aphaeresis: experience in Puerto Rico.

The Puerto Rico (PR) Region of the American Red Cross (ARC) evaluated the therapeutic aphaeresis program and we conducted 1609 procedures in 30 months between 2011 and 2013. The primary objective of the present review was to demonstrate our data and compare it to the reviewed medical evidence regarding the adequacy of applying therapeutic aphaeresis (TA) for chosen indications based on data in the literature. It was concluded that our service is very active and appropriate, and the number of TA's done varies and it's not steady year-by-year. The indications are the same as most common indicators across the World and the adverse reactions are too. We are the only ones doing apheresis in the pediatric population of PR. No deaths have been reported from our procedures. We understand that clinicians do not have enough knowledge about TA and tend to apply TA's in many cases as a last resort treatment for many diseases. Education at medical faculties and of hospital staff (nurses and medical technologists) about TA is very important. There is a need for symposia about this topic to the medical and general community.

[Exploration study of knowledge and attitudes related to prevention and transmission of dengue in Puerto Rico in 2012]. / Estudio de exploración de conocimientos y actitudes en relación a la prevención y transmisión del dengue en Puerto Rico en el 2012.

We got one of the most significant epidemics of the history of Dengue in Puerto Rico despite all major educational efforts made. The objective is to determine how much knowledge the people have about the prevention and transmission of Dengue virus. We administered a questionnaire of fifteen questions to 140 people of different communities at the metropolitan area as well as in the East area of Puerto Rico during the months of September to November of 2012. 88% were adults, 100 were women and 40 men. The majority was from Caguas, Carolina, San Juan, and Bayamon. 60% were professionals. One hundred percent knew what Dengue is and 90% knows the mosquito. 77% of the participants know the actual epidemics, but the men got a 10% higher knowledge than women on the subject. Around 47% are not prepared to fight the Dengue virus, but they have great knowledge about the preventive measures and the clinical Management of Dengue Syndrome. 66% did not know that Puerto Rico has a Dengue Center from the CDC located at the Island. Only 17.5% of the participants knows that the Dengue Virus can be transmitted through transfusion of blood components. Our study met our objectives showing that we have good knowledge about Dengue, but there is poor knowledge about the transmission of Dengue Virus through transfusion of blood components. There is a big necessity to develop community strategies to eliminate this disease. We recommend repeating this study with more collaboration from other entities, more questions, and more participants.

Severe hypertriglyceridemia in Puerto Rico blood donors: a population study 2009-2011.

Puerto Rico blood donor issues has been identified in cases of severe hypertriglyceridemia presenting as turbid. Blood donations resulting in milky serum must be discarded. They are discarded because we cannot properly test the donation. This is the first report where we correlate turbidity and cardiovascular risk factors in the Puerto Rico population as well as blood types O and A, Rh (+) with dyslipidemia. Blood donors should be screened in more details regarding cardiovascular and metabolic risks to avoid problems with recruitment and retention strategies.

Autosomal-dominant inheritance of the prothrombin gene mutation in a Puerto Rican family: A case study.

Splenic infarction is rare and the prothrombin gene mutation (PGM) is not commonly observed in Puerto Rico. PGM is present in 1% of the general population, and in 7% of the people with deep venous thrombosis (DVT); it is found in up to 40% of patients with splenic-portal-mesenteric thrombosis. Our study has identified a Puerto Rican family of four generations whose members all have inherited PGM in an autosomal dominant manner. The eldest member of the family, an 82-year-old male, presented with DVT of the lower extremity. The man's 62-year-old daughter had suffered a splenic infarction; his 37-year-old grandson presented with superficial and deep vein thrombosis (SDVT), and his great-grandson of 8 years was asymptomatic at the time of the report. This is the second report of PGM as the cause of a hypercoagulable state and the first reported PGM-related splenic infarction in Puerto Rico. We need to test for genetic hypercoagulable states in the members of Puerto Rican families with thromboembolism. Once testing has revealed the existence of such states in a given family, it is important that the family members receive genetic counseling.