Pharmacogenomics in cardiovascular disorders: Steps in approaching personalized medicine in cardiovascular medicine

Christopher Barone, Shaymaa S Mousa, Shaker A MousaThe Pharmaceutical Research Institute, Albany College of Pharmacy and Health Sciences, Albany, NY, USAAbstract: Some of the most commonly prescribed medications are those for cardiovascular maladies. The beneficial effects of these medications have been well documented. However, there can be substantial variation in response to these medications among patients, which may be due to genetic variation. For this reason pharmacogenomic studies are emerging across all aspects of cardiovascular medicine. The goal of pharmacogenomics is to tailor treatment to an individual’s genetic makeup in order to improve the benefit-to-risk ratio. This review examines the potential pharmacogenomic parameters which may lead to a future of personalized medicine. For example, it has been found that patients with CYP2C9 and VKORC1 gene variations have a different response to warfarin. Other studies looking at β-blockers, ACE inhibitors, ARBs, diuretics and statins have shown some results linking genetic variations to pharmacologic response. However these studies have not impacted clinical use yet, unlike warfarin findings, as the small retrospective studies need to be followed up by larger prospective studies for definitive results.Keywords: cardiovascular, pharmacogenomics, genetics, cardiovascular medicine, personalized medicine, polymorphis

Polycystic ovary syndrome and its impact on women’s quality of life: More than just an endocrine disorder

In the past, polycystic ovary syndrome has been looked at primarily as an endocrine disorder. Studies now show that polycystic ovary syndrome is a metabolic, hormonal, and psychosocial disorder that impacts a patient’s quality of life. It is extremely important to holistically treat these patients early on to help them deal with the emotional stress that is often overlooked with polycystic ovary syndrome. Early diagnosis and long term management can help control polycystic ovary syndrome so that women can still live a healthy active life and avoid long-term complications such as metabolic syndrome and cardiovascular diseases

I hear you eat and speak: automatic recognition of eating condition and food type, use-cases, and impact on ASR performance

We propose a new recognition task in the area of computational paralinguistics: automatic recognition of eating conditions in speech, i. e., whether people are eating while speaking, and what they are eating. To this end, we introduce the audio-visual iHEARu-EAT database featuring 1.6 k utterances of 30 subjects (mean age: 26.1 years, standard deviation: 2.66 years, gender balanced, German speakers), six types of food (Apple, Nectarine, Banana, Haribo Smurfs, Biscuit, and Crisps), and read as well as spontaneous speech, which is made publicly available for research purposes. We start with demonstrating that for automatic speech recognition (ASR), it pays off to know whether speakers are eating or not. We also propose automatic classification both by brute-forcing of low-level acoustic features as well as higher-level features related to intelligibility, obtained from an Automatic Speech Recogniser. Prediction of the eating condition was performed with a Support Vector Machine (SVM) classifier employed in a leave-one-speaker-out evaluation framework. Results show that the binary prediction of eating condition (i. e., eating or not eating) can be easily solved independently of the speaking condition; the obtained average recalls are all above 90%. Low-level acoustic features provide the best performance on spontaneous speech, which reaches up to 62.3% average recall for multi-way classification of the eating condition, i. e., discriminating the six types of food, as well as not eating. The early fusion of features related to intelligibility with the brute-forced acoustic feature set improves the performance on read speech, reaching a 66.4% average recall for the multi-way classification task. Analysing features and classifier errors leads to a suitable ordinal scale for eating conditions, on which automatic regression can be performed with up to 56.2% determination coefficient

Long term visual outcomes in laser treated threshold retinopathy of prematurity in Central Saudi Arabia

AbstractPurposeTo assess the long term visual outcomes and refractive status of patients who underwent diode laser for threshold retinopathy of prematurity (ROP) and to investigate the risk factors leading to poor visual outcomes.MethodsFifty-seven patients (114 eyes) with threshold ROP who underwent laser therapy were contacted for reassessment. A chart review was performed for all patients to collect data on visual acuity, retinal status and strabismus. A favorable visual outcome was defined as ⩾20/160 (Snellen acuity) for young adults (cooperative patients), and ⩾CSM for children (uncooperative patients) while unfavorable visual outcome was defined as <20/160 or <CSM. Vision in uncooperative children was graded as central, steady, maintain. Descriptive and inferential analyses were conducted. Chi2 and odds ratios were calculated whenever appropriate. A P value <0.05 was considered as statistically significant.ResultsThe mean age at reassessment was 5.2±2.5years (range, 1–10years) where 36 (63.2%) patients were males and 21 (36.8%) were females. Out Of the 114 laser treated eyes, 73 (64%) were myopic, with mean spherical equivalent (SE) of −6.69 (5.9), range (−0.25 to −21) diaopters, 8 (7%) were emmetrope, while other 33 (29%) were hyperopic with mean SE of +2.43 (3.04), range (+0.25 to +17) diaopters. Strabismus was present in 31 patients (54.4%) of whom 81% (25/31) were esotropic. Retina was found to be normal in 77.1% of the examined eyes, while the remaining eyes had either macular dragging or retinal detachment. Almost 70% of the eyes with a normal retinal examination had favorable visual outcome. Thirteen (11.4%) eyes had zone 1 retinopathy, 83 (72.8%) eyes had zone 2 retinopathy and 2 (1.8%) eyes had zone 3 retinopathy. Vitreous hemorrhage was present in 7 (6.1%) eyes prior to laser treatment. The relationship between final retinal status and visual outcome was statistically significant (P<0.0001). There was no statistically significant correlation between visual outcome and the zone of the retinopathy (P=0.448).ConclusionThe majority of patients who underwent diode laser therapy for threshold ROP had favorable anatomical and visual outcomes. However, high refractive error and strabismus may be clinically the pertinent causes of visual impairment

The role of clinical decision support systems in preventing stroke in primary care: a systematic review.

Computerized clinical decision support systems (CDSS) are increasingly being used to facilitate the role of clinicians in complex decision-making processes. This systematic review evaluates evidence of the available CDSS developed and tested to support the decision-making process in primary healthcare for stroke prevention and barriers to practical implementations in primary care settings. A systematic search of Web of Science, Medline Ovid, Embase Ovid, and Cinahl was done. A total of five studies, experimental and observational, were synthesised in this review. This review found that CDSS facilitate decision-making processes in primary health care settings in stroke prevention options. However, barriers were identified in designing, implementing, and using the CDSS

Monosodium glutamate induced histological change in the Zona Fasiculata of rats' adrenal and the possible amelioration effect of vitamin C supplementation

Monosodium glutamate in gesting (MSG) is steadily increasing worldwide as a flavour enhancer and food additive. On the other hand, vitamins C has antioxidant properties and can play an important role in preventing or improving many diseases. So, the aim of the present study is to study the impact of MSG administration on the histological structure of the zonafasciculata (ZF) of adult albino rat adrenal cortex and to clarify the possible amelioration effect of vitamin C cosupplementation. Thirty adult male albino rats were divided equally into three groups: group I; negative and positive (received100mg/kg vitamin C) control subgroups. MSG-treated group were administered 2 mg/g body weight MSG via gastric tube andascorbic acid supplemented group were given the same dose of MSG, followed by vitamin C at a dose similar to the positive control group. Tissue sections were obtained and proceeded for light and electron microscope examination. Plasma ACTH and cortisone were estimated. Morphometric and statistical analysis of the results were performed. Plasma ACTH and corticosterone levels in the MSG-treated group were significantly increased comparing to control and MSGtreated group receiving vitamin C. Histologically, in the MSG-treated group, ZF contained highly vacuolated cells and congested blood vessels. The reticular fibres were increased in MSG-treated group decreased in ascorbic acid supplemented group. Ultrastructurally, ZF contained cells with shrunken nuclei and numerous macrophages containing many lysosomes. On the other hand, the cellular architecture of ascorbic acid supplemented group was less affected and congested blood sinusoids were still detected. The reticular fibres were decreased in ascorbic acid supplemented group. Oral administration of MSG caused histological and functional degenerative changes in the ZF of adrenalin adult male albino rat which was ameliorated by supplementation of vitamin C. So, it is recommended to minimize consumption of foodstuffs containing MSG and to eat foods rich in vitamin C after performing more researchers to be sure of these effects on humans.MS

Clinical and inheritance profiles of Kallmann syndrome in Jordan

BACKGROUND: Proper management of patients with Kallmann syndrome (KS) allows them to attain a normal reproductive health. The purpose of this study is to demonstrate the presentation modalities, phenotypes and the modes of inheritance among 32 patients with Kallmann syndrome in Jordan. Recognition of the syndrome allows for prompt proper management and provision of genetic counselling. SUBJECTS: Over a period of five years (1999–2004), the clinical and inheritance profiles of 26 male and 6 female patients with Kallmann syndrome from 12 families were evaluated at the National Center for Diabetes, Endocrinology and Genetics in Jordan. RESULTS: The patients belonged to twelve Jordanian and Palestinian families and their age at presentation ranged from 4 – 46 years. Nine boys aged 4–14 years presented with cryptorchidism and microphallus, all other males presented with delayed puberty, hypogonadism and/or infertility. The main presentation among six female patients was primary amenorrhea. Intrafamilial variability in clinical phenotype was specifically evident for renal abnormalities and sensorineural hearing impairment. Familial KS was diagnosed in 27 patients belonging to five families with the X-linked mode of inheritance and two families with the autosomal recessive mode of inheritance. CONCLUSIONS: (1) the majority of cases in this study represented the X-linked form of KS, which might point to a high prevalence of Kal 1 gene in the population. (2) Genetic counselling helps these families to reach a diagnosis at an early age and to decide about their reproductive options. (3) Children presenting with cryptorchidism and microphallus in our population should be investigated for KS