Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with intractable convulsion, cyanosis and cardiovascular failure in the fourth week of life and expired on the sixth week of life, whereas the first twin had some characteristic facial appearance with developmental delay but no other signs of the 22q11.2 microdeletion syndrome including cardiovascular malformation. The fluorescence in situ hybridization (FISH) analysis had shown a microdeletion on the chromosome 22q11.2 in both twins. The interphase FISH did not find any evidence for the mosaicism. The genomic DNA microarray analysis, using HumanCytoSNP-12 BeadChip (Illumina), was identical between the twins except different size of deletion of 22q11.2. The zygosity using HumanCytoSNP-12 BeadChip (Illumina) microarray analysis suggested monozygosity. This observation indicates that altered size of the deletion may be the underlying etiology for the discordance in phenotype in monozygotic twins. We think early post zygotic events (mitotic non-allelic homologous recombination) could have been played a role in the alteration of 22q11.2 deletion size and, thus phenotypic variability in the monozygotic twins

Joga i rehabilitacja kardiologiczna (Yoga-CaRe) u osób po przebyciu ostrego epizodu wieńcowego

Cardiovascular diseases are a leading cause of death and disability in Asian Indians with huge psychological and economic impact as it affects population in thirty- and forty-year-olds, previously healthy adults and most productive social group. Successful transcatheter therapeutics has opened a new vista for its management; however, it cannot prevent its recurrence. Therefore, secondary prevention is cornerstone of management. Yoga-based Cardiac Rehabilitation (Yoga-CaRe) is a multifaceted approach targeting patient’s physical, psychological, social and occupational status, preventing or delaying the progression of underlying disease and reducing the risk of recurrent rehospitalization and death as well as enabling the patients to live a comfortable and active life. Yoga is an ancient Indian system of philosophy; a mind-body discipline encompassing an array of philosophical precepts, mental attitudes and physical practice. Of seven major branches of yoga, Hatha yoga, which itself includes many different styles (e.g. Iyenger, Ashtanga, etc.), is probably the most commonly recognized, and incorporates elements of physical poses, breath control and meditation, and self-restraint (including that of diet, smoking, alcohol intake and sleep patterns). A Cochrane review reported a 27% reduction in total mortality and 19% reduction in total mortality and non-fatal cardiac events with cardiac rehabilitation (CR), comparing favorably to effective pharmacological treatments (e.g. antiplatelets, angiotensin-converting enzyme inhibitors, statins and beta-blockers). Yoga, therefore, could provide a useful frame work on which to develop an economical CR program, with additional advantages of being culturally appropriate to Indians and potentially be appealing to global population.Choroby układu sercowo-naczyniowego są główną przyczyną zgonów i niepełnosprawności mieszkańców Indii, a ponadto mają ogromny wpływ psychologiczny i ekonomiczny, ponieważ często dotykają 30- i 40-latków, wcześniej niechorujących, którzy stanowią najbardziej produktywną grupę społeczną. Skuteczne techniki przezcewnikowe otworzyły nowe perspektywy w leczeniu tych chorób, jednak nie mogą zapobiec ich nawrotom. Z tego względu podstawowe znaczenie ma prewencja wtórna. Rehabilitacja kardiologiczna oparta na jodze (Yoga-CaRe) to wielopłaszczyznowe podejście oddziałujące na sferę fizyczną, psychiczną, społeczną i zawodową, którego celem jest zapobieganie lub spowalnianie progresji choroby podstawowej i obniżenie ryzyka ponownej hospitalizacji lub zgonu, a także poprawa komfortu życia i zachowanie pełnej aktywności. Joga to starożytny hinduski system filozoficzny, którego istotą jest dyscyplina ciała i umysłu i który obejmuje szereg reguł filozoficznych oraz ćwiczeń mentalnych i fizycznych. Spośród siedmiu głównych odmian jogi najbardziej znaną jest Hatha yoga, która również obejmuje wiele różnych rodzajów (tj. Iyenger, Ashtanga etc.) i łączy element ćwiczeń fizycznych, kontroli oddechu i medytacji z samoograniczeniami (dotyczącymi diety, palenia tytoniu, spożywania alkoholu i snu). W przeglądzie danych dostępnych w bazie Cochrane wykazano, że rehabilitacja kardiologiczna (CR) powoduje zmniejszenie o 27% śmiertelności całkowitej oraz o 19% śmiertelności całkowitej i zdarzeń sercowych niezakończonych zgonem, a więc pozwala uzyskać korzystniejsze efekty niż skuteczna farmakoterapia (tj. leki przeciwpłytkowe, inhibitory konwertazy angiotensyny, statyny i antagoniści receptorów beta-adrenergicznych). Joga może być użyteczna jako podstawa do opracowania ekonomicznego program CR, a jej dodatkowym atutem jest zgodność z kulturą Indii i popularność na całym świecie

ANALYSIS OF PSYCHO-SOCIAL RISK FACTORS IN PATIENTS WITH RECENT ACUTE CORONARY SYNDROME: A CASE-CONTROL STUDY

ABSTRACTObjective: Although psycho-social factors are reported to be independently associated with myocardial ischemia in many studies, the majority ofthese were done in the western population. This was conducted in India to determine the impact of psycho-social factors in subjects with the recentacute coronary syndrome (ACS).Methods: Patients with the first episode of ACS within 4 weeks of onset at LPS Institute of Cardiology, Kanpur, India between 2013 and 2015 wereenrolled as cases. Control was community-based individuals without coronary artery disease. Both were compared for demographic variables,the psycho-social profile including annual income, education status, depression, stressful life events (using presumptive stressful life events scale,i.e. PSLES), and independent predictors were determined using multiple logistic regression analysis and were computed as odds ratio (OR).Results: Between 200 cases and 200 controls, respectively, statistically significant difference was observed in mean annual income (2.74±1.95 vs.2.23±1.22 lac rupees; p<0.05), smoking exposure (13.93±16.17 vs. 4.88±3.10 pack years; p<0.05), mean number of stressful life events (8.18±2.57 vs.4.14±1.63; p<0.05). Depression (48% vs. 27%; p<0.05) while education status was comparable. Further, odds of having myocardial infarction werehigher for subjects with mild-to-moderate depression (OR: 2.45), family history of heart disease (OR: 2.25), hypertensive males (OR: 1.43), anddiabetic females (OR: 1.22).Conclusion: Psycho-social factors, particularly depression may have a significant role in the prognosis of ACS. Further systematic studies arewarranted to provide more important insights regarding the magnitude of the association between psycho-social factors and the onset of ACS.Keywords: Coronary artery disease, Depression, Psycho-social factors, Presumptive stressful life events scale, Stressful life events

Coronary Angiography Safety between Transradial and Transfemoral Access

Background and Aim. The aim of study was to evaluate safety, feasibility, and procedural variables of transradial approach compared with transfemoral approach in a standard population of patients undergoing coronary catheterization as one of the major criticisms of the transradial approach is that it takes longer overall procedure and fluoroscopy time, thereby causing more radiation exposure. Method. Between January 2015 and December 2015, a total of 1,997 patients in LPS Institute of Cardiology, GSVM Medical College, Kanpur, UP, India, undergoing coronary catheterization were randomly assigned to the transradial or transfemoral approach. Result. Successful catheterization was achieved in 1045 of 1076 patients (97.1%) in the transradial group and in 918 of 921 patients (99.7%) in the transfemoral group (p=0.001). Comparing the transradial and transfemoral approaches, fluoroscopy time (2.46±1.22 versus 2.83±1.31 min; p=0.32), procedure time (8.89±2.72 versus 9.33±2.82 min; p=0.56), contrast volume (67.52±22.54 versus 71.63±25.41 mL; p=0.32), radiation dose as dose area product (24.2±4.21 versus 22.3±3.46 Gycm2; p=0.43), and postprocedural rise of serum creatinine (6±4.5% versus 8±2.6%; p=0.41) were not significantly different while vascular access site complications were significantly lower in transradial group than transfemoral group (3.9% versus 7.6%; p=0.04). Conclusion. The present study shows that transradial access for coronary angiography is safe among patients compared to transfemoral access with lower rate of local vascular complications

Optimasi Portofolio Resiko Menggunakan Model Markowitz MVO Dikaitkan dengan Keterbatasan Manusia dalam Memprediksi Masa Depan dalam Perspektif Al-Qur`an

Risk portfolio on modern finance has become increasingly technical, requiring the use of sophisticated mathematical tools in both research and practice. Since companies cannot insure themselves completely against risk, as human incompetence in predicting the future precisely that written in Al-Quran surah Luqman verse 34, they have to manage it to yield an optimal portfolio. The objective here is to minimize the variance among all portfolios, or alternatively, to maximize expected return among all portfolios that has at least a certain expected return. Furthermore, this study focuses on optimizing risk portfolio so called Markowitz MVO (Mean-Variance Optimization). Some theoretical frameworks for analysis are arithmetic mean, geometric mean, variance, covariance, linear programming, and quadratic programming. Moreover, finding a minimum variance portfolio produces a convex quadratic programming, that is minimizing the objective function ðð¥with constraintsð ð 𥠥 ðandð´ð¥ = ð. The outcome of this research is the solution of optimal risk portofolio in some investments that could be finished smoothly using MATLAB R2007b software together with its graphic analysis

Azimuthal anisotropy of charged jet production in root s(NN)=2.76 TeV Pb-Pb collisions

We present measurements of the azimuthal dependence of charged jet production in central and semi-central root s(NN) = 2.76 TeV Pb-Pb collisions with respect to the second harmonic event plane, quantified as nu(ch)(2) (jet). Jet finding is performed employing the anti-k(T) algorithm with a resolution parameter R = 0.2 using charged tracks from the ALICE tracking system. The contribution of the azimuthal anisotropy of the underlying event is taken into account event-by-event. The remaining (statistical) region-to-region fluctuations are removed on an ensemble basis by unfolding the jet spectra for different event plane orientations independently. Significant non-zero nu(ch)(2) (jet) is observed in semi-central collisions (30-50% centrality) for 20 <p(T)(ch) (jet) <90 GeV/c. The azimuthal dependence of the charged jet production is similar to the dependence observed for jets comprising both charged and neutral fragments, and compatible with measurements of the nu(2) of single charged particles at high p(T). Good agreement between the data and predictions from JEWEL, an event generator simulating parton shower evolution in the presence of a dense QCD medium, is found in semi-central collisions. (C) 2015 CERN for the benefit of the ALICE Collaboration. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).Peer reviewe

Search for heavy resonances decaying to two Higgs bosons in final states containing four b quarks

A search is presented for narrow heavy resonances X decaying into pairs of Higgs bosons (H) in proton-proton collisions collected by the CMS experiment at the LHC at root s = 8 TeV. The data correspond to an integrated luminosity of 19.7 fb(-1). The search considers HH resonances with masses between 1 and 3 TeV, having final states of two b quark pairs. Each Higgs boson is produced with large momentum, and the hadronization products of the pair of b quarks can usually be reconstructed as single large jets. The background from multijet and t (t) over bar events is significantly reduced by applying requirements related to the flavor of the jet, its mass, and its substructure. The signal would be identified as a peak on top of the dijet invariant mass spectrum of the remaining background events. No evidence is observed for such a signal. Upper limits obtained at 95 confidence level for the product of the production cross section and branching fraction sigma(gg -> X) B(X -> HH -> b (b) over barb (b) over bar) range from 10 to 1.5 fb for the mass of X from 1.15 to 2.0 TeV, significantly extending previous searches. For a warped extra dimension theory with amass scale Lambda(R) = 1 TeV, the data exclude radion scalar masses between 1.15 and 1.55 TeV