1%), and variants of uncertain significance in 1,712 participants (30.8%). Ten genes represent 68% of all pathogenic and likely pathogenic variants in eyeGENE. #link# Cross-referencing current gene therapy clinical trials, over a thousand participants may be eligible, based on pathogenic variants in genes targeted by those therapies. This article is the first summary of genetic testing from thousands of participants tested through eyeGENE, including reports from 5,552 individuals. eyeGENE provides a launching point for inherited eye research, connects researchers with potential future study participants, and provides a valuable resource to the vision community.Over the past 2 decades, more women in the United States are engaging in excessive alcohol use, including women of reproductive age. Consuming alcohol in amounts greater than recommended limits is associated with an increased risk for adverse health effects, such as breast cancer, hypertension stroke, spontaneous abortion, and infertility. No safe time, safe amount, or safe type of alcohol to consume during pregnancy has been identified. Contradictory beliefs about alcohol use, fear of stigmatization, and potential legal consequences can provide challenges for health care providers who communicate these risks to clients. Health care providers can help to prevent alcohol-related health issues, including alcohol-exposed pregnancies, by providing their clients with factual information about alcohol and health and client-centered options for reducing their health risks. Clinicians can use alcohol screening and brief intervention as a framework for applying the ethical principles of autonomy, veracity, beneficence, and nonmaleficence when talking with women in ways that are nonstigmatizing and supportive to help reduce their health risks and prevent alcohol-exposed pregnancies.
Adenosine triphosphate-binding cassette subfamily B member 4 (ABCB4) deficiency may lead to progressive familial intrahepatic cholestasis type 3 (PFIC3), biliary cirrhosis, low phospholipid-associated cholelithiasis (LPAC), intrahepatic cholestasis of pregnancy (ICP), oral contraceptive-induced cholestasis (CIC) or may remain asymptomatic. The long-term course, quality of life and histology were investigated in ABCB4 deficiency.
Adult carriers of ABCB4 gene variants from two regional academic centres were analysed by history taking, electronic patient files, physical examination, blood analysis, abdominal ultrasound (US) and liver elastography. Patients completed a 36-Item Short Form Health Survey (SF-36) for quality of life and a Visual Analogue Scale (VAS) for pruritus. Available liver specimens were re-classified according to the Nakanuma scoring system, so far validated for primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC) only. Quality of life data were compared to published ficiency has a mild clinical course, but impaired quality of life and limited risk of CCA. The Nakanuma scoring system appears feasible for histological evaluation in ABCB4 deficiency.
A supportive practice climate is demonstrated to improve patient outcomes, health care provider well-being, and workforce stability. Midwives are an integral component to improving maternal health care; however, there has been limited research into the qualities and measurement of a supportive practice climate for midwives.
The Midwifery Practice Climate Scale is a self-report instrument designed to measure midwives' perceptions of their work environments. We tested the scale's validity and reliability in multiphase, national cross-sectional survey of the full roster of certified nurse-midwives and certified midwives practicing in the United States. To test structural validity and reliability testing, 2 subsamples of 330 participants were randomly extracted from the sample of 2887 for exploratory and confirmatory factor analyses and internal consistency determination. Convergent validity was tested in the remaining sample of 1673 respondents.
Exploratory factor analysis revealed 2 5-subscale structures indicate that the Midwifery Practice Climate Scale accurately and reliably measures the midwives' perceptions of their practice environment. The next steps include determining the scale's sensitivity to change and assessing the relationship with maternal health outcomes.The VUV absorption spectrum of fenchone is re-examined using synchrotron radiation Fourier transform spectrometry, revealing new vibrational structure. Picosecond laser (2+1) resonance enhanced multiphoton ionization (REMPI) spectroscopy complements this, providing an alternative view of the 3spd Rydberg excitation region. These spectra display broadly similar appearance, with minor differences that are largely explained by referring to calculated one- and two-photon electronic excitation cross-sections. Both show good agreement with Franck-Condon simulations of the relevant vibrational structures. Parent ion REMPI ionization yields with both femtosecond and picosecond excitation laser pulses are studied as a function of laser polarization and intensity, the latter providing insight into the relative two-photon excitation and one-photon ionization rates. The experimental circular-linear dichroism observed in the parent ion yields varies strongly between the 3s and 3p Rydberg states, in good overall agreement with the calculated two-photon excitation circular-linear dichroism, while corroborating other evidence that the 3pz sub-state plays no more than a very minor role in the (2+1) REMPI spectrum. Vibrationally resolved photoelectron spectra are recorded with picosecond pulse duration (2+1) REMPI at selected intermediate vibrational excitations. The 3s intermediate state displays a very strong Δv=0 propensity on ionization, but the 3p intermediate evidences more complex vibronic dynamics, and we infer some 3p→3s internal conversion prior to ionization.Composite endpoints reveal the tendency for statistical convention to arise locally within subfields. Composites are familiar in cardiovascular trials, yet almost unknown in sepsis. However, the VITAMINS trial in patients with septic shock adopted a composite of mortality and vasopressor-free days, and an ordinal scale describing patient status rapidly became standard in COVID studies. Enpp1IN1 that recent use could incite interest in such endpoints, we are motivated to flag their potential value and pitfalls for sepsis research and COVID studies.Enpp1IN1
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