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Global Pharmaceutical and Medical Research Conference (GPMRC) 2017
14-15 April - Sheraton Dubai Creek, UAE
1- Genetic Analysis of Barterâs and Giltelmanâs Syndromes in Saudi Patients
Alanoud A Aleid, Mashael A Alrubaishi, Maha M Alrasheed, and Ali Alzahrani
Bartter and Gitelman syndromes are rare autosomal recessive disorders characterized by hypokalemia, metabolic alkalosis, and normal to low blood pressure. They can be clinically divided into antenatal and classical Bartter’s syndrome and Giltelman’s syndrome. On the other hand, they can be classified into five subtypes (I to V) based on the underlying mutant genes. Furthermore, the role of gene mutation in Bartter’s and Giltelman’s syndromes has not been previously studied on the Saudi population.
Four unrelated Saudi patients were screened for genetic mutations. DNA was extracted from whole blood using the Gentra Pure gene DNA purification blood Core Kit C. Primers were designed to include exon and intron boundaries for the following genes: SLC12A1, KCNJ1, CLCNKB, BSND and SLC12A3. Polymerase chain reaction was performed through PTC200 Thermal Cycler and was checked on 2% agarose gel. Mega BACE DNA analysis system was used to screen for mutations, and the data was analyzed by Lasergene Software. Biochemical data was extracted from patients’ files.
Among the three studied genes, 3 novel mutations and a reported one were discovered. Two mutations were identified in NKCC2 gene in 2 patients, the novel c.1216 G>C (p.406 Asp>His) and the reported c.1942G>A (p.648Asp>Asn). Moreover, the other 2 novel mutations c.1325A>C (p.442Asn>Thr) and c.1685T>C (p.562Asn>Thr) in SLC12A3 and CLCKB respectively, were discovered in the other 2 patients.
In this study, we identified three nonsynonymous novel mutations, in addition to a known one in 4 unrelated Bartter and Gitelman syndromes patients. Further research is warranted in order to facilitate the early diagnosis of such genetic syndromes
2- Pregabalin Medication Use Evaluation in a Tertiary Care Hospital in Riyadh
Maha E Aljuhanei, and Mohammed Alwaily
Pregabalin is a modulator of voltage-gated calcium channels, designed to affect neurological transmission in multiple systems. Pregabalin is an anticonvulsant indicated for neuropathic pain, an adjunct therapy for partial onset seizures, post-herpetic neuralgia, diabetic peripheral neuropathy and fibromyalgia. After more than a decade, experience and studies have shown that the adverse effects profile of pregabalin were well tolerated from the benign central nervous system and systemic adverse effects, to the very limited metabolic, idiosyncratic and teratogenic adverse effects.
This retrospective study will attempt to describe the indications and assess the use of Pregabalin in adult outpatient services in a tertiary care hospital to prevent inappropriate use or abuse. Design and methods A retrospective Medication use evaluation (MUE) through searching of hospital data base system for the use of Pregabalin between January 1, 2015 and April 30, 2015 in tertiary care hospital. The main outcome measures include the indication and dosing.
A total of 407 patients were included. The majority of patients were receiving pregabalin for painful diabetic neuropathy 90 patients (22.1%), then for low back pain 70 patients (17.2%), neuropathic pain 25 patients (6.1%), carpal tunnel syndrome 23 patients (5.7%), degenerative disc disease 22 patients (5.4%) and there is evidence for other indications. The doses of pregabalin prescribed were (75 mg QD) 230 patients (56.5%), (75 mg BD) 71 patients (17.4%), (150 mg QD) 62 patients (15.2%) and (150 mg BD) 31 patients (7.1%). Among the 407 patients, no adverse effects have been documented. Chronic illness was the cause of death in 3 patients.
Pregabalin uses do not comply with what is approved by the FDA. This study highlights the need for developing prospective standards and target interventions for the other indications.
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