First case report of Nager syndrome patient from Georgia.

Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous. Heterozygous variants in SF3B4 on chromosome 1q21 are found in approximately 60% of patients. Here, we report a first patient from Georgia diagnosed with Nager syndrome with detailed description of its clinical manifestations and diagnosis.

Group A Streptococcus Infections: Their Mechanisms, Epidemiology, and Current Scope of Vaccines.

Group A streptococci (GAS) are gram-positive, cocci-shaped bacteria that cause a wide variety of infections and are a cause of significant health burden, particularly in lower- and middle-income nations. The GAS genome contains a number of virulence factors such as the M-protein, hyaluronic acid, C5a peptidase, etc. Despite its significant health burden across the globe, a proper vaccine against GAS infections is not yet available. Various candidates for an effective GAS vaccine are currently being researched. These are based on various parts of the streptococcal genome. These include candidates based on the N-terminal region of the M protein, the conserved C-terminal region of the M protein, and other parts of the streptococcal genome. The development of a vaccine against GAS infections is hampered by certain challenges, such as extensive genetic heterogeneity and high protein sequence variation. This review paper sheds light on the various virulence factors of GAS, their epidemiology, the different vaccine candidates currently being researched, and the challenges associated with M-protein and non-M-protein-based vaccines. This review also sheds light on the current scenario regarding the status of vaccine development against GAS-related infections.

Eustachian valve myxoma: a rare cause of Budd-Chiari syndrome.

Budd-Chiari syndrome caused by right atrial myxomas are extremely rare. We report the case of a patient who presented with chronic liver disease who upon consequent investigation was found to have a mass occupying the right atrium and ventricle consistent with cardiac tumour. Intraoperatively, a giant mass was removed from the right atrium with the tumour stalk originating from the Eustachian valve. Histologic findings were consistent with myxoma.

Analysis of genetic diversity and population structure in Asparagus species using SSR markers.

BACKGROUND: Various Asparagus species constitute the significant vegetable and medicinal genetic resource throughout the world. Asparagus species serve as important commodity of food and pharmaceutical industries in India. A diverse collection of Asparagus species from different localities of Northwest India was investigated for its genetic diversity using simple sequence repeat (SSR) markers. RESULTS: Polymorphic SSR markers revealed high genetic diversity. Primer SSR-15 amplified maximum of 8 fragments while 3 primers, namely, SSR-43, SSR-63, and AGA1 amplified minimum of 3 fragments. Collectively, 122 alleles were amplified in a range between 3 and 8 with an average of 5 alleles per marker. The size of the amplified alleles ranged between 90 and 680 base pairs. Polymorphism information content (PIC) value varied from a highest value of 0.499 in primer AGA1 to a lowest value of 0.231 in primer SSR-63 with a mean value of 0.376 showing considerable SSR polymorphism. Dendrogram developed on the basis of Jaccard's similarity coefficient and neighbor-joining tree segregated all the studied Asparagus species into two discrete groups. Structure analysis based on Bayesian clustering allocated different accessions to two independent clusters and exhibited low level of individual admixture. CONCLUSIONS: The genetic diversity analysis showed a conservative genetic background for maximum species of asparagus. Only Accessions of Asparagus adscendens were split into two diverse clusters suggesting a wide genetic base of this species as compared to other species. Overall genetic diversity was high, and this germplasm of Asparagus can be used in future improvement programs. The findings of current research on Asparagus germplasm can make a momentous contribution to initiatives of interbreeding, conservation, and improvement of Asparagus in future.

Ibutilide with magnesium for conversion of atrial fibrillation or flutter in rheumatic heart disease patients: Ibutilide with magnesium for chemical cardioversion of atrial fibrillation or flutter.

BACKGROUND: Data on adjunctive use of magnesium with ibutilide for conversion of persistent rheumatic atrial fibrillation and flutter to sinus rhythm is lacking. AIM: We aimed to study the efficacy of adjunctive supplementation of intravenous magnesium with ibutilide for conversion of persistent rheumatic atrial fibrillation and flutter to sinus rhythm and to define a definite level of serum magnesium which leads to significant increase in rates of such conversion. METHODS AND RESULTS: This was a prospective study including 33 Rheumatic heart disease patients (13 males and 20 females) with mean age of 49.27 ± 11.4 years and persistent AF or AFl. All patients received intravenous magnesium to raise serum magnesium level in range of 4 mg/dl to 4.5 mg/dl prior to administration of Ibutilide. 25 out of 33 (76%) patients converted to sinus rhythm. Upon univariate analysis, presence of background beta blocker therapy, serum potassium and magnesium at time of Ibutilide injection were found to have significant relation with conversion to sinus rhythm. Upon multivariate analysis serum magnesium level at the time of Ibutilide injection was found to have significant contribution on post injection rhythm reversal (p-value = 0.006). The level of magnesium at 3.8 mg/dl was found to have maximum sensitivity of 96% and specificity of 62.5% for conversion to sinus rhythm by ibutilide with magnesium (p-value< 0.05). CONCLUSIONS: Ibutilide is highly effective in cardioversion of persistent rheumatic atrial fibrillation/flutter patients. Raising Serum Magnesium levels above 3.8 mg/dl significantly improves efficacy of ibutilide.

Microalbuminuria: Correlation With Prevalence and Severity of Coronary Artery Disease in Non-Diabetics.

BACKGROUND: Previous studies have shown that microalbuminuria (MAU) is an independent risk factor for cardiovascular diseases in diabetics, hypertensive patients and in the general population. However, the correlation of MAU with the severity of coronary artery disease (CAD) in non-diabetic patients has not been addressed in detail. This study aimed to investigate the relationship between MAU and severity of angiographically confirmed CAD in non-diabetic patients. METHODS: This was a cross-sectional study, which included 90 non-diabetic patients with documented CAD by coronary angiography. The ratio of urine albumin to creatinine was used to define MAU and severity of CAD was estimated using SYNTAX score. Patients were divided into two groups: group I that included patients without MAU and group II that included patients with MAU. RESULTS: Out of 90 non-diabetic CAD patients, 62 (68.9%) were in group I (MAU negative) and 28 (31.1%) were in group II (MAU positive). There was statistically significant difference in the median SYNTAX score between the groups (21 vs. 28, P < 0.001). The prevalences of double vessel CAD and triple vessel CAD were significantly higher in MAU positive group. There was a strong relationship between the presence of MAU and the extent and complexity of CAD (r = 0.094; P < 0.001). CONCLUSION: Thus, we conclude that patients with MAU have more severe angiographically detected CAD than those without MAU, and MAU exhibits a significant association with the presence and severity of CAD.

Effect of Ranolazine in Patients with Chest Pain and Normal Coronaries- A Hospital Based Study.

INTRODUCTION: There is an important role of coronary microcirculation in the clinical presentation and prognosis of patients who have typical chest pain despite normal epicardial coronary arteries (microvascular angina). Treatment of these patients is empirical because of the incomplete knowledge of its cause. Limited data has shown that ranolazine reduces angina and improves exercise performance in such patients with frequent angina. AIM: To evaluate the effect of ranolazine in patients with chest pain and normal epicardial coronaries (micro-vascular angina). MATERIALS AND METHODS: Sixty-five patients with anginal symptoms with abnormal exercise stress test and normal epicardial coronaries were enrolled for the study. All participants had baseline demographic and health history questionnaires, including Seattle Angina Questionnaire (SAQ) and Duke Activity Status Index (DASI). After enrolment, patients were randomly divided into two groups. One group (group 1) was assigned to ranolazine for six weeks along with other indicated anti-anginal drugs. The other group (group 2) was assigned to anti-anginal drugs other than ranolazine. Patients were reassessed for symptomatic and functional improvement (SAQ, DASI) at six weeks. RESULTS: Mean age of patients examined were 49.03 years in group 1 and 49.77 years in group 2. Approximately 42.9% of patients in group 1 and 40% in group 2 were male. Despite current anti-anginal therapy, patients in both the groups were symptomatic. At six weeks, 60% of patients in group 1 had angina as compared to 88.6% at baseline (p<0.05). Similarly, scores of domains of SAQ were higher at six weeks as compared to baseline (p<0.05) except for treatment satisfaction. No improvement of DASI score and functional capacity were seen in either group at six weeks as compared to baseline (p>0.05). At six weeks, angina was significantly lower in group 1 as compared to group 2 (60 % vs 86.7%; p<0.05). Four out of five SAQ subscale score were higher in ranolazine group as compared to the other group (p<0.05). Treatment satisfaction trended lower on ranolazine group (p<0.05). There was no significant differences in DASI in the two groups (DASI score 30.59 vs 29.85, p>0.05). CONCLUSION: Ranolazine is safe and improves symptoms significantly in patients with micro-vascular angina.

Squamous Cell Carcinoma of Lung Atypically Involving Heart: A Case Report With Literature Review.

Cardiac metastasis usually appears in patients with disseminated tumor disease. Involvement of heart in malignancy is generally underestimated and found to be in up to 25% of post mortem patients who had died of cancer. Cardiac involvement in metastases is usually uncommon; however, it may present with tachycardia, arrhythmia, cardiomegaly, heart failure, dyspnoea, hypotension, and pulsus paradoxus. Right side of heart is commonly known to be involved and the order of frequency of malignancies to metastasize to layers of the heart is pericardium, myocardium and endocardium.

Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of Literature.

CHARGE syndrome is a common cause of congenital anomalies. Its rate of incidence is about 1:10,000. It is phenotypically heterogeneous, usually a sporadic or autosomal dominant disorder resulting from a mutation in the CHD7 (chromodomain helicase DNA-binding protein) gene. Since the time it was first described by Hall,[1] the knowledge of the clinical characteristics of CHARGE syndrome has increased over the years. Recently, basiocciput hypoplasia and basilar invagination in patients with CHARGE syndrome have been reported. We report here a case of CHARGE syndrome where there is involvement of symmetrical chorioretinal colobomata with craniovertebral junction anomalies. The patient had symmetrical chorioretinal colobomata, external and inner ear anomalies, sensorineural deafness, characteristic facial appearance, retarded growth and development, history of patent ductus arteriosus, and craniovertebral junction anomalies. Craniovertebral junction anomalies may be an under-diagnosed phenotypic expression of CHARGE syndrome. The diagnostic criteria of CHARGE syndrome may require further revision to include the addition of craniovertebral junction anomalies.

tranSMART: An Open Source Knowledge Management and High Content Data Analytics Platform.

The tranSMART knowledge management and high-content analysis platform is a flexible software framework featuring novel research capabilities. It enables analysis of integrated data for the purposes of hypothesis generation, hypothesis validation, and cohort discovery in translational research. tranSMART bridges the prolific world of basic science and clinical practice data at the point of care by merging multiple types of data from disparate sources into a common environment. The application supports data harmonization and integration with analytical pipelines. The application code was released into the open source community in January 2012, with 32 instances in operation. tranSMART's extensible data model and corresponding data integration processes, rapid data analysis features, and open source nature make it an indispensable tool in translational or clinical research.

Submitral aneurysm: a case report.

Submitral aneurysm is a congenital out pouching of the left ventricular wall invariably occurring adjacent to the posterior leaflet of the mitral valve. This rare cardiac entity was initially described among the natives of South and West Africa and is considered rare in the Indian subcontinent. The clinical picture is dominated by congestive cardiac failure in the presence of mitral regurgitation. Echocardiography provides precise non-invasive diagnosis. The literature is reviewed to increase the awareness of clinicians, especially echocardiographers about this rare cardiac disorder when coming across congestive cardiac failure with mitral regurgitation in young population.