Self-reported patient ethnicity in genetic counseling practice: a closer look at its current role and room for improvement

Despite the importance of patient ethnicity in clinical genetics, its usage in genetic counseling has not been characterized. This study looked at attitudes of genetic counselors (GCs) towards the role of patient self-reported ethnicity and its incorporation into their practice, specifically related to carrier screening. 475 GCs were recruited through the National Society of Genetic Counselors Listserv. Respondents answered an online survey consisting of qualitative and quantitative questions. Questions addressed how patient ethnicity is elicited and used in clinical practice. Case studies involving patients with varying ethnicities were presented for evaluation. Participants’ attitudes towards the use of ethnicity in clinical practice were evaluated before and after reviewing data showing patient self-reported ethnicity is not always a good proxy for genetic ancestry. We found that 96% of respondents elicited patient ethnicity information during the family history. Terms like “comes from originally” and “ancestry” were most often used (66% and 47% respectively), possibly to better inform assessment of disease or carrier risk. In response to the case studies, many participants asked the same questions regardless of patient ethnicity. Post-data review participants did not think patient ethnicity was as good a proxy for genetic ancestry as they had prior (p\u3c.001). They also thought it was less useful for clinical risk assessment (p\u3c.001), but did still have some clinical utility. Overall, surveyed GCs showed an awareness of the limitations of patient reported ethnicity but still found clinical utility in obtaining the information. This may be for residual risk calculation, determination of which screening to offer when insurance coverage is not available, or risk assessment when one partner is unavailable for testing. Future research is needed to understand these reasons. GCs may need to reconsider the role of ethnicity in their practice given its limitations and increased availability of expanded carrier screening

Platelet count estimation: a prognostic index in pregnancy induced hypertension

Background: Hypertension in pregnancy is one of the serious complications of pregnancy with an incidence of 5% to 7% of all pregnancies, particularly in cases with preeclampsia and eclampsia. Though platelet count during pregnancy is within the normal non pregnant reference values, there is a tendency for the platelet count to fall in late pregnancy. The frequency and intensity of maternal thrombocytopenia varies and is dependent on the intensity of the disease process and duration of PIH syndrome.Methods: A prospective observational study was conducted on 200 pregnant women attending OPD Or Inpatients in the Department of Obstetrics and Gynecology, SMGS Hospital, GMC Jammu from November 2015 to October 2016. Pregnant women beyond 28 weeks gestation of pregnancy are included and divided into two groups i.e. the study and control group. Platelet counts will be done every 4 weeks in controls and weekly in subjects from 28 weeks till delivery.Results: The mean platelet count observed among cases of mild preecclampsia, severe preeclampsia and ecclampsia was 2.26, 1.63 and 0.99 lakh/mm3 respectively. The difference in mean platelet count among cases and controls was statistically significant. The association of platelet count with severity of different categories of PIH was analysed statistically and was highly significant.Conclusions: Platelet count is a very important investigation for the antenatal mother having PIH, as it is directly related to maternal and perinatal outcome. Routine and regular monitoring of platelet count can be included in the routine antenatal checkup among the pregnant women with PIH

Vaginal delivery for breech presentation should be an option: experience in a tertiary care hospital

Background: The purpose of this prospective study was to evaluate the feasibility of vaginal delivery of uncomplicated singleton breech presentation by evaluating early neonatal morbidity and mortality as well as maternal morbidity following vaginal and caesarean delivery for breech presentation.Methods: 290 women with singleton breech presentation at term in labor were counseled about the risks and benefits of both the modes of delivery. Neonatal and maternal outcome were recorded and statistically analyzed.Results: APGAR at 5 min and NICU admission were not affected by mode of delivery. Long term neonatal outcome is similar in either mode of delivery. Maternal morbidity and duration of hospital stay is increased in caesarean births.Conclusions: Neonatal outcome did not depend on mode of delivery though maternal morbidity and cost of care is increased following Caesarean Section. Proper selection of cases and by improving skill & confidence in new generation obstetrician, vaginal delivery of singleton fetuses in breech presentation at term remains a safe option that can be offered to a woman in a tertiary care centre

ORTHODONTIC MARVEL: 2X4 APPLIANCE FOR IMPACTED INCISOR TRACTION - A CASE SERIES

Impacted incisors can pose significant esthetic and functional challenges for patients. Various treatment approaches have been proposed. The 2x4 orthodontic appliance is one of the most effective treatment plans for aligning the teeth. This article presents two cases showing surgical traction's effectiveness using the 2x4 orthodontic appliance in managing impacted incisors. The results of this case series demonstrated successful outcomes in terms of impacted incisor alignment and overall occlusion. Patients exhibited improved esthetics and function. Therefore, Surgical traction of impacted incisors using the 2x4 orthodontic appliance can be a viable and effective treatment approach.&nbsp

Modelling the Anomalous Oxidation Behavior of Zirconium Alloys

Zirconium alloys, widely used as the cladding material for fuel rods in pressurized-water-reactors, undergo oxidation during service. The initial oxidation kinetics is very similar in form to that of a classically passivating layer. However, as the oxide layer reaches a certain critical thickness, a sudden increase in the rate of weight-gain is observed while the oxide layer remains adhered to the substrate. This process repeats itself with an approximately regular period in time. Microscopy images reveal a co-related periodicity in the oxide's microstructure as well. The acceleration in the oxidation kinetics associated with these transitions leads to an increase in the amount of hydrogen entering the Zircaloy, limiting the fuel burn-up in the reactors by causing hydrogen embrittlement. The aim of this thesis, therefore, is to develop physics-based-models to understand the mechanisms which govern this anomalous behavior. Specifics of the three major parts of this work are outlined below. Mechanistic model for oxide growth stresses: The stresses within the oxide layer have been postulated to play an important role in affecting its protectiveness, for example, by allowing crack formation. Therefore, a mechanistic model for the oxide stresses is presented, showing that the oxide deforms primarily by dislocation glide for $T<900$ K, while the creep of the substrate only becomes significant at higher temperatures. Model predictions also suggest that the transitions in the oxidation kinetics cannot be attributed to a macroscopic fracture of the oxide. Hence, a possible indirect influence of the oxide stresses via a phase transformation is studied next. Model for the martensitic phase transformation in the oxide: Tetragonal-to-monoclinic phase transformation driven by stress-relaxation has been postulated to affect the porosity of the oxide layer by forming micro-cracks. Therefore, a free-energy-based framework is developed to investigate its favorability using 3-D twinning-based simulations in ABAQUS. Results show that the loss of coherency at the grain-oxide interface plays a crucial role in driving this phase transformation. Furthermore, the stress evolution within the oxide is found to have a negligible effect on the transformation-energy barriers. Therefore, alternate mathematical models for the periodic oxidation kinetics of Zircaloys are proposed next. Application of Turing's pattern formation theory to oxidation-type systems: Turing's reaction-diffusion theory has provided crucial insights into the periodic behavior of various physical systems. Candidate mathematical models for Zircaloy oxidation based on the application of this theory to a moving-boundary system are proposed. These models consider two species which satisfy the Turing criteria of pattern formation, and a third species which corresponds to the oxygen ion. Model behavior shows periodic spatial distribution of the Turing species, as well as transitions in the oxidation kinetics [hence reproducing all of the prominent features of the experimental data]. An alternative preliminary oxidation model is proposed, based on the stress-dependent interaction that occurs between two immobile species: tetragonal phase of the oxide, and pores. Model predictions show a spatial periodicity in the distribution of both of these species, in addition to the transitions in the boundary kinetics, as observed experimentally. In summary, this thesis furthers a largely experimental literature on Zircaloy oxidation with a rigorous quantitative understanding of the underlying physical mechanisms. Furthermore, to the best of our knowledge, this is the first time that mathematical models for the oxidation behavior of Zircaloys have been proposed without using the unreasonable assumption of oxide cracking.PHDMechanical EngineeringUniversity of Michigan, Horace H. Rackham School of Graduate Studieshttp://deepblue.lib.umich.edu/bitstream/2027.42/169636/1/ishag_1.pd

Maternal haemoglobin and perinatal outcome in a tertiary care hospital in Jammu city, India

Background: Maternal anemia is a common problem worldwide. The objective of this study was to assess the prevalence of anemia in women attending a tertiary care centre in their third trimester of pregnancy and to study the relation of maternal hemoglobin with perinatal outcome.Methods: This study was conducted in the Department of Obstetrics and Gynecology, SMGS Hospital, Jammu for a period of one year from Nov. 2015 to Oct. 2016. A total of 767 women in their third trimester (>28 weeks) were enrolled and were followed till delivery. Their hemoglobin levels were noted and its association with adverse maternal and fetal outcomes was studied.Results: It was seen that out of 767 patients, 193 (25.16%) were non-anemic and 574 (74.83%) were anemic out of which 343 (44.71%) were mildly anemic, 160 (20.86%) had moderate anemia and 70 (9.12%) had severe anemia. There was increased incidence of preterm delivery, PPH, preeclampsia, eclampsia, CCF, mortality & blood transfusions in the anemic group as compared to the non-anemic group. Among the adverse fetal outcomes, there was increased incidence of intrauterine deaths, intrauterine growth restriction, NICU admissions, meconium stained liquor, low birth weight babies and APGAR scores <7/10 among the anemic group as compared to the non-anemic group.Conclusions: Maternal anemia is a significant risk factor for adverse maternal and perinatal outcome and its prevalence continues to be high especially in developing countries like India. So, correction of maternal anemia still remains one of the most important step towards better obstetrical care