The double outlet right ventricle with additional cardiac malformations: an anatomic and echocardiographic study

Double outlet right ventricle (DORV) is a complex group of abnormal ventriculoarterial connections where both the aorta and pulmonary artery rise from the right ventricle morphologically. It is a rare condition affecting 1–1.5% of patients with congenital heart disease. The patient’s cardiac measurements were taken by two-dimensional echocardiography. The pathological findings of the defined case are illustrated in the figures. A 20-year-old male patient with palpitations, tachypnea, and tiredness with weak exercise capacity and back pain was diagnosed with heart murmur in different degrees; slight cyanosis, cachexia, and developmental retardation were found clinically. Echocardiography showed: DORV, perimembranous ventricular septal defect, pulmonary stenosis, dilatated right ventricle, and dilatated left atrium. However, the left ventricle was normal. In addition, the septum interatriale filled the left atrium like an aneurysm. DORV is an important and rare congenital cardiac malformation. This complex condition may result in different clinical findings and require different therapeutic approaches

Absence of the musculocutaneous nerve together with unusual innervation of the median nerve

During routine anatomical dissections, absence of the musculocutaneous nerve was determined in a 58-year-old male cadaver. Moreover, the biceps brachii and brachialis muscles were innervated by two separate branches which divided from the median nerve instead of the musculocutaneous nerve. From a branch that divides from the main trunk of the median nerve at nearly the middle of the arm a motor branch again divided that innervated the brachialis muscle and a sensory branch that conveyed the sense of the lateral part of the forearm. Furthermore, it was found that the brachial artery divided into its terminal branches, the radial and ulnar arteries. We believe that this rare variation of the median nerve will shed light upon surgical procedures involving the median nerve

Can Measurements of Electric Dipole Moments Determine the Seesaw Parameters?

In the context of the supersymmetrized seesaw mechanism embedded in the Minimal Supersymmetric Standard Model (MSSM), complex neutrino Yukawa couplings can induce Electric Dipole Moments (EDMs) for the charged leptons, providing an additional route to seesaw parameters. However, the complex neutrino Yukawa matrix is not the only possible source of CP violation. Even in the framework of Constrained MSSM (CMSSM), there are additional sources, usually attributed to the phases of the trilinear soft supersymmetry breaking couplings and the mu-term, which contribute not only to the electron EDM but also to the EDMs of neutron and heavy nuclei. In this work, by combining bounds on various EDMs, we analyze how the sources of CP violation can be discriminated by the present and planned EDM experiments.Comment: 26 pages, 9 figures; added reference

Probing CP Violation with the Deuteron Electric Dipole Moment

We present an analysis of the electric dipole moment (EDM) of the deuteron as induced by CP-violating operators of dimension 4, 5 and 6 including theta QCD, the EDMs and color EDMs of quarks, four-quark interactions and the Weinberg operator. We demonstrate that the precision goal of the EDM Collaboration's proposal to search for the deuteron EDM, (1-3)\times 10^{-27} e cm, will provide an improvement in sensitivity to these sources of one-two orders of magnitude relative to the existing bounds. We consider in detail the level to which CP-odd phases can be probed within the MSSM.Comment: 5 pages, 4 figures; precision estimates clarified, to appear in Phys. Rev.

Explicit CP violation in the Dine-Seiberg-Thomas model

The possibility of explicit CP violation is studied in a supersymmetric model proposed by Dine, Seiberg, and Thomas, with two effective dimension-five operators. The explicit CP violation may be triggered by complex phases in the coefficients for the dimension-five operators in the Higgs potential, and by a complex phase in the scalar top quark masses. Although the scenario of explicit CP violation is found to be inconsistent with the experimental data at LEP2 at the tree level, it may be possible at the one-loop level. For a reasonable parameter space, the masses of the neutral Higgs bosons and their couplings to a pair of $Z$ bosons are consistent with the LEP2 data, at the one-loop level.Comment: 5 pages, 2 figure

Supersymmetry and a rationale for small CP violating phases

We analyse the CP problem in the context of a supersymmetric extension of the standard model with universal strength of Yukawa couplings. A salient feature of these models is that the CP phases are constrained to be very small by the hierarchy of the quark masses, and the pattern of CKM mixing angles. This leads to a small amount of CP violation from the usual KM mechanism and a significant contribution from supersymmetry is required. Due to the large generation mixing in some of the supersymmetric interactions, the electric dipole moments impose severe constraints on the parameter space, forcing the trilinear couplings to be factorizable in matrix form. We find that the LL mass insertions give the dominant gluino contribution to saturate epsilon_K. The chargino contributions to epsilon'/epsilon are significant and can accommodate the experimental results. In this framework, the standard model gives a negligible contribution to the CP asymmetry in B-meson decay, a_{J/\psi K_s}. However, due to supersymmetric contributions to B_d-\bar{B}_d mixing, the recent large value of a_{J/\psi K_s} can be accommodated.Comment: 30 pages, 5 figures. Version to appear in Nucl. Phys.

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis

Context: Patients with resistance to thyroid hormone (TH) α (RTHα) are characterized by growth retardation, macrocephaly, constipation, and abnormal thyroid function tests. In addition, almost all RTHα patients have mild anemia, the pathogenesis of which is unknown. Animal studies suggest an important role for TH and TH receptor (TR)α in erythropoiesis.Objective: To investigate whether a defect in TRα affects the maturation of red blood cells in RTHα patients.Design, Setting, and Patients: Cultures of primary human erythroid progenitor cells (HEPs), from peripheral blood of RTHα patients (n = 11) harboring different inactivating mutations in TRα (P398R, F397fs406X, C392X, R384H, A382fs388X, A263V, A263S), were compared with healthy controls (n = 11). During differentiation, erythroid cells become smaller, accumulate hemoglobin, and express different cell surface markers. We assessed cell number and cell size, and used cell staining and fluorescence-activated cell sorter analysis to monitor maturation at different time points.Results: After ∼14 days of ex vivo expansion, both control and patient-derived progenitors differentiated spontaneously. However, RTHα-derived cells differentiated more slowly. During spontaneous differentiation, RTHα-derived HEPs were larger, more positive for c-Kit (a proliferation marker), and less positive for glycophorin A (a differentiation marker). The degree of abnormal spontaneous maturation of RTHα-derived progenitors did not correlate with severity of underlying TRα defect. Both control and RTHα-derived progenitors responded similarly when differentiation was induced. T3 exposure accelerated differentiation of both control- and RTHα patient-derived HEPs.Conclusions: Inactivating mutations in human TRα affect the balance between proliferation and differentiation of progenitor cells d

Hadronic EDMs, the Weinberg Operator, and Light Gluinos

We re-examine questions concerning the contribution of the three-gluon Weinberg operator to the electric dipole moment of the neutron, and provide several QCD sum rule-based arguments that the result is smaller than - but nevertheless consistent with - estimates which invoke naive dimensional analysis. We also point out a regime of the MSSM parameter space with light gluinos for which this operator provides the dominant contribution to the neutron electric dipole moment due to enhancement via the dimension five color electric dipole moment of the gluino.Comment: 6 pages, RevTeX, 3 figures; v2: references added; v3: typos corrected, to appear in Phys. Rev.

Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Probing exotic phenomena at the interface of nuclear and particle physics with the electric dipole moments of diamagnetic atoms: A unique window to hadronic and semi-leptonic CP violation

The current status of electric dipole moments of diamagnetic atoms which involves the synergy between atomic experiments and three different theoretical areas -- particle, nuclear and atomic is reviewed. Various models of particle physics that predict CP violation, which is necessary for the existence of such electric dipole moments, are presented. These include the standard model of particle physics and various extensions of it. Effective hadron level combined charge conjugation (C) and parity (P) symmetry violating interactions are derived taking into consideration different ways in which a nucleon interacts with other nucleons as well as with electrons. Nuclear structure calculations of the CP-odd nuclear Schiff moment are discussed using the shell model and other theoretical approaches. Results of the calculations of atomic electric dipole moments due to the interaction of the nuclear Schiff moment with the electrons and the P and time-reversal (T) symmetry violating tensor-pseudotensor electron-nucleus are elucidated using different relativistic many-body theories. The principles of the measurement of the electric dipole moments of diamagnetic atoms are outlined. Upper limits for the nuclear Schiff moment and tensor-pseudotensor coupling constant are obtained combining the results of atomic experiments and relativistic many-body theories. The coefficients for the different sources of CP violation have been estimated at the elementary particle level for all the diamagnetic atoms of current experimental interest and their implications for physics beyond the standard model is discussed. Possible improvements of the current results of the measurements as well as quantum chromodynamics, nuclear and atomic calculations are suggested.Comment: 46 pages, 19 tables and 16 figures. A review article accepted for EPJ