scholarly journals The Project Talent Twin and Sibling Study: Zygosity and New Data Collection

2019 ◽  
Vol 22 (6) ◽  
pp. 769-778
Author(s):  
Carol A. Prescott ◽  
Ellen E. Walters ◽  
Thalida Em Arpawong ◽  
Catalina Zavala ◽  
Tara L. Gruenewald ◽  
...  
Keyword(s):  
Data Collection ◽  
Human Genetics ◽  
Aging Study ◽  
Sources Of Variation ◽  
Current Article ◽  
The Common ◽  
Data Collections ◽  
Survey Responses ◽  
Adolescent Twins

AbstractThe Project Talent Twin and Sibling (PTTS) study includes 4481 multiples and their 522 nontwin siblings from 2233 families. The sample was drawn from Project Talent, a U.S. national longitudinal study of 377,000 individuals born 1942–1946, first assessed in 1960 and representative of U.S. students in secondary school (Grades 9–12). In addition to the twins and triplets, the 1960 dataset includes 84,000 siblings from 40,000 other families. This design is both genetically informative and unique in facilitating separation of the ‘common’ environment into three sources of variation: shared by all siblings within a family, specific to twin-pairs, and associated with school/community-level factors. We term this the GIFTS model for genetics, individual, family, twin, and school sources of variance. In our article published in a previous Twin Research and Human Genetics special issue, we described data collections conducted with the full Project Talent sample during 1960–1974, methods for the recent linking of siblings within families, identification of twins, and the design of a 54-year follow-up of the PTTS sample, when participants were 68–72 years old. In the current article, we summarize participation and data available from this 2014 collection, describe our method for assigning zygosity using survey responses and yearbook photographs, illustrate the GIFTS model applied to 1960 vocabulary scores from more than 80,000 adolescent twins, siblings and schoolmates and summarize the next wave of PTTS data collection being conducted as part of the larger Project Talent Aging Study.

O-009 Data from the ESHRE PGT consortium – year 2019

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
A Van Montfoort ◽  
M De Rycke ◽  
F Carvalho ◽  
C Rubio ◽  
F Bronet ◽  
...  
Keyword(s):  
Data Collection ◽  
Chromosomal Abnormalities ◽  
Polar Body ◽  
Oocyte Retrieval ◽  
Human Reproduction ◽  
Online Data ◽  
Data Set ◽  
Aneuploidy Testing ◽  
Data Collections

Abstract text Study question Which are the trends shown in data collection XXI of the European Society of Human Reproduction and Embryology (ESHRE) PGT Consortium compared with previous years? Summary answer Data collection XXI, year 2019, represents valuable data on PGT activity in (mainly) Europe and reports on the main trends observed, being the further expansion of comprehensive testing technology in PGT-SR and PGT-A. What is known already The ESHRE PGT Consortium was set up in 1997 and from that time has been collecting data on PGT and PGT-A. The PGT database comprises the world’s largest collection of PGT / PGT-A data providing a valuable resource for data mining and for following trends in PGT practice. So far, up to the year 2015, data collections were carried out in a retrospective data way, from 2016 onwards a prospective data collection was in place. Study design, size, duration As the nature of PGT/ PGT-A treatments has changed significantly over the last years and IVF cycle management and genetic analysis techniques are getting more complex, ESHRE uses an online data collection system in which data are collected prospectively from oocyte retrieval to analysis, embryo transfer and pregnancy / live birth. Data are collected cycle by cycle on a voluntary basis. Participants/materials, settings, method For the 2019 data, individual centres (31) from 19 countries directly entered the data into the PGT database through software developed by ESHRE. Data were analysed at ESHRE headquarters and include all aspects of PGT/PGT-A cycles. Main results and the role of chance The Consortium has analysed the PGT analyses (n = 2735) performed in 2019. The indications for PGT included inherited chromosomal abnormalities (n = 253 analyses), monogenic disorders (n = 1105 analyses), aneuploidy testing for infertility (n = 1111 analyses) or combinations of the above (n = 266 analyses). In addition, 662 clinical pregnancies and 216 deliveries have been analysed in detail. The methods used for biopsy were polar body (2%), cleavage stage biopsy (35%) and blastocyst biopsy (61%; comparable with data from 2018). The methodology used for diagnosis is what is evolving most over the last years, with data set XXI (2019) showing around 7% of FISH, 37% of PCR and 55% of WGA. Within WGA 90.6% of the analysis were done using NGS, in 4.4% cases SNP arrays were used and in 2.4% array-CGH was used. The overall clinical pregnancy rate is about 24% per analysis. The baby data show that it is difficult for most centres to have a detailed follow-up. Limitations, reasons for caution The findings apply to the 31 participating centres and may not represent worldwide trends in PGT. Data were collected prospectively, but details of the follow-up on PGT pregnancies and babies born were limited. Wider implications of the findings The ESHRE PGD Consortium continues its activities as an important forum for PGT practitioners to share data and exchange experiences. The information extracted from the data collections helps to monitor quality issues in PGT and survey the introduction and effectiveness of new PGT technologies and methods.

scholarly journals The Finnish Twin Cohort Study: An Update

2013 ◽  
Vol 16 (1) ◽  
pp. 157-162 ◽  
Author(s):  
Jaakko Kaprio
Keyword(s):  
Cohort Study ◽  
Data Collection ◽  
Longitudinal Data ◽  
Population Based ◽  
Data Sets ◽  
Omics Data ◽  
International Collaborations ◽  
Data Collections ◽  
Adult Twins

In 2002 and 2006, review papers have described the Finnish Twin Cohort and studies conducted on these population-based, longitudinal data sets with extensive follow-up data. Three cohorts have been established: the older twin cohort in the 1970s, and the Finntwin12 and Finntwin16 studies initiated in the 1990s. The present review provides on update on the latest data collections conducted since the previous review. These cover the fourth waves of data collection in the older cohort (twins born before 1958) and Finntwin12 (twins born 1983–1987). The fifth wave of data collection in Finntwin16 (twins born 1975–1979) also included assessments of their spouses/partners. An analysis of mortality in the older cohort from 1975 to 2009 indicates that the mortality of adult twins (as individuals) does not differ from the population at large. Based on the cohorts, many sub-studies with more detailed phenotyping and collection of omics data have been conducted or are in progress. We also contribute to numerous national and international collaborations.

Modulation of carotid strain by statin therapy in atherosclerosis patients

VASA ◽  
2017 ◽  
Vol 46 (2) ◽  
pp. 108-115 ◽  
Author(s):  
Christian Alexander Schaefer ◽  
Anna Katharina Blatzheim ◽  
Sebastian Gorgonius Passon ◽  
Kristin Solveig Pausewang ◽  
Nadjib Schahab ◽  
...  
Keyword(s):  
Statin Therapy ◽  
Pulse Wave ◽  
Ultrasound Examination ◽  
Ankle Brachial Index ◽  
Radial Strain ◽  
Strain Analysis ◽  
Duplex Ultrasound ◽  
Strain Imaging ◽  
The Common

Abstract. Background: The beneficial effect of statin therapy on the progress of atherosclerotic disease has been demonstrated by numerous studies. Vascular strain imaging is an arising method to evaluate arterial stiffness. Our study examined whether an influence of statin therapy on the vessel wall could be detected by vascular strain imaging. Patients and methods: 88 patients with recently detected atherosclerosis underwent an angiological examination including ankle-brachial index (ABI), pulse wave index (PWI), central puls ewave velocity and duplex ultrasound. Captures for vascular strain analysis were taken in B-mode during ultrasound examination of the common carotid artery and evaluated using a workstation equipped with a speckle tracking based software. A statin therapy was recommended and after six months a follow-up examination took place. Meanwhile, the non-adherence of a group of patients (N = 18) lead to a possibility to observe statin effects on the vascular strain. Results: In the statin non-adherent group the ABI decreased significantly to a still non-pathological level (1.2 ± 0.2 vs. 1.0 ± 0.2; p = 0.016) whereas it stagnated in the adherent group (1.0 ± 0.2 vs. 1.0 ± 0.2; p = 0.383). The PWI did not differ in the non-adherent group (180.5 ± 71.9 vs. 164.4 ± 75.8; p = 0.436) but under statin therapy it decreased significantly (261.8 ± 238.6 vs. 196.4 ± 137.4; p = 0.016). In comparison to the adherent group (4.2 ± 2.0 vs. 4.0 ± 1.8; p = 0.548) under statin therapy the radial strain decreased significantly in the non-adherent group (4.7 ± 2.0 vs. 3.3 ± 1.1; p = 0.014). Conclusions: Our findings reveal a beneficial influence of statin therapy on the arterial wall detected by vascular strain analysis.

Khandut revisited: Monuments, shrines, and newly discovered rock art in Wakhan District

Afghanistan ◽  
2018 ◽  
Vol 1 (2) ◽  
pp. 282-301
Author(s):  
John Mock
Keyword(s):  
Central Asia ◽  
Rock Art ◽  
Field Work ◽  
Present Condition ◽  
Current Article

In 1972, a brief article titled “Khandud, Village de la Vallée du Wakhan” appeared in Afghanistan 25. The subsequent decades of conflict precluded any follow-up research in Wakhan. The current article, based on field work from 2004 to 2016, examines the present condition of the sites described in 1972, offers a revised analysis of their significance, and introduces newly discovered rock art that connects Wakhan with the Saka culture of Central Asia and illustrates indigenous traditions of the Pamir-Hindukush ethnolinguistic region.

Melatih Kepemimpinan Perangkat Desa Kebonharjo Kulonprogo: Membangun Sikap Anti Korupsi

2018 ◽  
Vol 1 ◽  
pp. 107
Author(s):  
Adi Heryadi ◽  
Evianawati Evianawati
Keyword(s):  
Transformational Leadership ◽  
Data Collection ◽  
Paired Samples ◽  
Significant Difference ◽  
Before And After ◽  
Post Test ◽  
Sample Test ◽  
Corruption Perception ◽  
Measuring Tool

This study aims to prove whether transformational leadership training is effective for building anti-corruption attitudes of villages in Kebonharjo village, subdistrict Samigaluh Kulonprogo. This research is an experimental research with one group pre and posttest design.Subject design is 17 people from village of 21 candidates registered. Measuring tool used in this research is the scale of anti-corruption perception made by the researcher referring to the 9 anti-corruption values with the value of reliability coefficient of 0.871. The module used as an intervention made by the researcher refers to the transformational leadership dimension (Bass, 1990). The data collected is analyzed by statistical analysis of different test Paired Sample Test. Initial data collection results obtained sign value of 0.770 which means> 0.05 or no significant difference between anti-corruption perception score between before and after training. After a period of less than 1 (one) month then conducted again the measurement of follow-up of the study subjects in the measurement again using the scale of anti-corruption perception. The results of the second data collection were analysed with Paired Samples Test and obtained the value of 0.623 sign meaning p> 0.05 or no significant difference between post test data with follow-up data so that the hypothesis of this study was rejected.

Decrease in Secondary Neck Vessels in Multiple Sclerosis: A 5-year Longitudinal Magnetic Resonance Angiography Study

2019 ◽  
Vol 16 (3) ◽  
pp. 215-223 ◽  
Author(s):  
Dejan Jakimovski ◽  
Matthew Topolski ◽  
Kana Kimura ◽  
Virja Pandya ◽  
Bianca Weinstock-Guttman ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Magnetic Resonance Angiography ◽  
Longitudinal Change ◽  
Repeated Measure ◽  
Cross Sectional ◽  
False Discovery ◽  
The Common ◽  
Neck Vessels

Background: Studies have previously shown greater arterial and venous extracranial vascular changes in persons with multiple sclerosis (PwMS) when compared to healthy controls (HCs). Objectives: To determine the change in the number and size of secondary neck vessels in PwMS and HCs over a 5-year follow-up period. Methods: Both at baseline and follow-up, 83 PwMS and 25 HCs underwent magnetic resonance angiography (MRA) imaging and analysis. The number and cross-sectional area (CSA) of all secondary neck vessels (excluding the common/internal carotid, vertebral artery, and internal jugular vein) measured at levels from C2-T1 were determined by semi-automated edge detection/ contouring software. The longitudinal change in the number and CSA of the secondary neck vessels from the PwMS and HCs were analyzed by non-parametric Wilcoxon repeated measure. Benjamini-Hochberg procedure adjusted for false discovery rate (FDR). Results: For over 5 years, PwMS demonstrated a consistent longitudinal decrease in both the number of secondary neck vessels (Z-change between -3.3 and -5.4, q=0.001) and their CSA (Zchange between -2.9 and -5.2, q=0.004). On the contrary, the HCs did not demonstrate a significant longitudinal change in secondary neck vessels over the follow-up period. Due to the longitudinal decrease, the PwMS showed a lower number of secondary neck vessels when compared to HCs measured at follow-up (p<0.029, except for C4 with trending p=0.071). The PwMS changes were also corroborated within each MS phenotype. Conclusion: PwMS demonstrate a significant mid-term decrease in the number and the size of the secondary neck vessels. The clinical relevance of these findings and the effect on intracranial blood flow are currently unknown.

A Review of Selected Adult Congenital Heart Diseases Encountered in Daily Practice

2020 ◽  
Vol 16 ◽  
Author(s):  
Farhan Bajwa ◽  
Syed M Jafri ◽  
Karthik Ananthasubramaniam
Keyword(s):  
Surgical Procedures ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Daily Practice ◽  
Congenital Heart Diseases ◽  
Congenital Diseases ◽  
Adult Congenital ◽  
The Common ◽  
Adult Congenital Heart Diseases

: The advancement in corrective surgical procedures and anaesthesia technology has resulted in the increase survival of patients with Congenital Heart Diseases (CHD). Most of the surviving CHD patients have successfully reached adulthood and those surviving adults now outnumber the infants born with the CHD. Unfortunately, the surviving adults with CHD do not get proper care due to either inconsistent follow up or not getting care from a specialist in the field of CHD. It is imperative for general practicing clinicians to be aware of the congenital diseases as well as the current clinical recommendations. This manuscript reviews some of the common congenital diseases seen in adults such as cardiac shunts, left heat obstructive lesions and aortopathies.

Fibroadenoma of Ectopic Breast Tissue in the Groin – A Rare Disease Entity

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S47-S48
Author(s):  
D Emechebe ◽  
M Alshal ◽  
T Rana ◽  
M Agaronov
Keyword(s):  
Breast Tissue ◽  
Tissue Mass ◽  
Ectopic Breast Tissue ◽  
The Common ◽  
Painless Mass ◽  
The Right ◽  
Ectopic Breast ◽  
Urogenital Anomalies ◽  
Superficial Soft Tissue

Abstract Introduction/Objective Ectopic breast tissue (EBT) is a well-documented anomaly of the breast and commonly presents along the embryonic milk line extending between the axilla and groin. Reported incidence of accessory breast is 0.4–6% in females. Pathologies developing in an EBT are reported as a rare entity in the literature. Carcinoma is reported as the common pathology followed by inflammation and fibroadenoma Methods We present a case of 43-year- old female who presented with a painless mass in her right groin for the past year which gradually increased in size. CT abdomen pelvis with contrast showed a 2.2 x 3.0 x 4.4 cm superficial soft tissue mass in the right groin which was suspected to be a lymph node. Further investigation and histopathological report of biopsy showed ectopic breast tissue with admixed chronic inflammation and reactive changes.However, excision of the mass three months later showed showed proloferation of both glandular and stromal elements. Results The tissue from the biopsy was positive for GATA 3, mammoglobin, GCDFP and CD 10 and the histological features on excision was confirmatory of fibroadenoma. Conclusion In conclusion, when tumors or nodules are found along the mammary line, the presence of breast tissue should be considered during the investigation. It is clinically wise to evaluate and screen carefully cases of supernumerary breast for any pathology and for any associated urogenital anomalies such as supernumerary kidneys, polycystic kidneys and renal cell adenocaricnoma. In our case, patient had no associated urogenital anomalies and she is on follow up.

scholarly journals 71 Ultrasound directed reduction of Colles’ type distal radial fractures in ED (UDiReCT): a feasibility randomized controlled trial

2020 ◽  
Vol 37 (12) ◽  
pp. 835.3-836
Author(s):  
Hamza Malik ◽  
Andrew Appelboam ◽  
Gordon Taylor ◽  
Daryl Wood ◽  
Karen Knapp
Keyword(s):  
Data Collection ◽  
Controlled Trial ◽  
Wrist Fracture ◽  
Recruitment Rate ◽  
Feasibility Trial ◽  
Point Of Care Ultrasound ◽  
Distal Radial Fractures ◽  
Definitive Trial ◽  
Randomised Controlled

Aims/Objectives/BackgroundWrist fractures are among the commonest injuries seen in the emergency department (ED). Around 25% of these injuries have Colles’ type fracture displacement and undergo manipulation in the ED. In the UK, these manipulations are typically done ‘blind’ without real time imaging and recent observational studies show that over 40% of the injuries go on to require surgical fixation (due to inadequate initial reduction or re-displacement). Point of care ultrasound has been used to guide and improve wrist fracture reductions but it’s effect on subsequent outcome is not established. We set up and ran the UK’s first randomised controlled feasibility trial comparing standard and ultrasound guided ED wrist fracture manipulations to test a definitive trial protocol, data collection and estimate recruitment rate towards a future definitive trial.Methods/DesignWe conducted a 1:1, single blind, parallel group, randomised controlled feasibility trial in two UK hospitals. Adults with Colles’ type distal radial fractures requiring manipulation in the ED were recruited by supervising emergency physicians supported by network research nurses. Participants were randomised to ultrasound directed fracture manipulation (intervention) or standard care with sham ultrasound (controls). The trial was run through Exeter Clinical Trials Unit and consent, randomisation and data collection conducted electronically in REDCap cloud. All participants were followed up at 6 weeks to record any surgical intervention and also underwent baseline and 3 month quality of life (EQ-5D-5L) and wrist function (Patient Rated Wrist Evaluation (PRWE) assessments.Results/ConclusionsWe recruited 47 patients in total, with 23 randomised to the interventional arm and 24 randomised to the control arm. We were able to follow up 100% of the patients for the 6 week follow up. Data analysis and results will be presented at the time of the conference.

scholarly journals Routine clinical care data from thirteen cardiac outpatient clinics: design of the Cardiology Centers of the Netherlands (CCN) database

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sophie H. Bots ◽  
Klaske R. Siegersma ◽  
N. Charlotte Onland-Moret ◽  
Folkert W. Asselbergs ◽  
G. Aernout Somsen ◽  
...  
Keyword(s):  
Risk Factors ◽  
General Practitioner ◽  
Data Collection ◽  
The Netherlands ◽  
Strong Base ◽  
Daily Care ◽  
Cardiac Symptoms ◽  
Number Of Patients ◽  
Patient Groups

Abstract Background Despite the increasing availability of clinical data due to the digitalisation of healthcare systems, data often remain inaccessible due to the diversity of data collection systems. In the Netherlands, Cardiology Centers of the Netherlands (CCN) introduced “one-stop shop” diagnostic clinics for patients suspected of cardiac disease by their general practitioner. All CCN clinics use the same data collection system and standardised protocol, creating a large regular care database. This database can be used to describe referral practices, evaluate risk factors for cardiovascular disease (CVD) in important patient subgroups, and develop prediction models for use in daily care. Construction and content The current database contains data on all patients who underwent a cardiac workup in one of the 13 CCN clinics between 2007 and February 2018 (n = 109,151, 51.9% women). Data were pseudonymised and contain information on anthropometrics, cardiac symptoms, risk factors, comorbidities, cardiovascular and family history, standard blood laboratory measurements, transthoracic echocardiography, electrocardiography in rest and during exercise, and medication use. Clinical follow-up is based on medical need and consisted of either a repeat visit at CCN (43.8%) or referral for an external procedure in a hospital (16.5%). Passive follow-up via linkage to national mortality registers is available for 95% of the database. Utility and discussion The CCN database provides a strong base for research into historically underrepresented patient groups due to the large number of patients and the lack of in- and exclusion criteria. It also enables the development of artificial intelligence-based decision support tools. Its contemporary nature allows for comparison of daily care with the current guidelines and protocols. Missing data is an inherent limitation, as the cardiologist could deviate from standardised protocols when clinically indicated. Conclusion The CCN database offers the opportunity to conduct research in a unique population referred from the general practitioner to the cardiologist for diagnostic workup. This, in combination with its large size, the representation of historically underrepresented patient groups and contemporary nature makes it a valuable tool for expanding our knowledge of cardiovascular diseases. Trial registration: Not applicable.

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