Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized.
Exome sequencing and positional mapping in seven families with cholestatic liver ...disease and negative clinical testing for known disease genes.
KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous likely deleterious variants in three families with sclerosing cholangitis. KIF12 expression is dependent on HNF-1β, deficiency which is known to cause bile duct dysmorphogenesis associated with loss of KIF12 expression. In another extended family, we mapped an apparently novel syndrome of sclerosing cholangitis, short stature, hypothyroidism, and abnormal tongue pigmentation in two cousins to a homozygous variant in PPM1F (POPX2), a regulator of kinesin-mediated ciliary transport. In the fifth family, a syndrome of normal gamma glutamyltransferase (GGT) cholestasis and hearing loss was found to segregate with a homozygous truncating variant in USP53, which encodes an interactor with TJP2. In the sixth family, we mapped a novel syndrome of transient neonatal cholestasis, intellectual disability, and short stature to a homozygous variant in LSR, an important regulator of liver development. In the last family of three affected siblings, a novel syndrome of intractable itching, hypercholanemia, short stature, and intellectual disability was mapped to a single locus that contains a homozygous truncating variant in WDR83OS (C19orf56), known to interact with ATP13A2 and BSEP.
Our results expand the genetic heterogeneity of pediatric cholestatic liver disease and highlight the vulnerability of bile homeostasis to a wide range of molecular perturbations.
Abstract Background Understanding the factors that contribute to unemployment will help in the design of creative resolutions to enable hemodialysis patients to return to a productive life. Methods ...We examined employment among 625 patients aged 18 to 60 years who were on hemodialysis in 8 dialysis units. Results Overall employment was low among patients on chronic hemodialysis at 49.7%. Unemployment was significantly higher in women than in men (86.6% vs 17.1%, p < 0.0001). The employment rate was 70.5% for those with no diabetes and hypertension, 29.5% for those with diabetes, and 25.9% for those with diabetes and hypertension. Furthermore, the results of the Cox regression showed that the variables of gender, level of education, capability of driving, and diabetes were related to employment of patients. Conclusions The majority of patients on hemodialysis are unemployed or exit paid employment due to early retirement. Patients with diabetes and women are a vulnerable population with a higher unemployment rate.
To evaluate physicians' knowledge of the ABCDE (Airway, Breathing, Circulation, Disability, Exposure) approach components.
A cross-sectional study was conducted in 2023 using an online questionnaire ...in order to collect data about the knowledge of the ABCDE approach's components among physicians in different specialties in Riyadh, Saudi Arabia.
The number of participants were 165 in total and the median knowledge score for all participants was 15.0, with an associated interquartile range (IQR) of 10.0 to 20.0. Intensive Care Medicine had the highest median knowledge score of 19.0 (IQR: 12.0-21.0), followed by Internal Medicine at 17.0 (IQR: 13.0-20.0). Conversely, Cardiology and Anesthesiology showed lower scores, with medians of 8.0 (IQR: 4.0-10.0) and 7.5 (IQR: 4.0-13.5), respectively (p = 0.011). Senior Registrars demonstrated the highest median knowledge score of 20.0 (IQR: 14.0-22.0), while Fellows had the lowest at 8.5 (IQR: 7.0-13.0) (p < 0.001). Practicing for 10 to 15 years and more than 15 years having medians of 20.0 (IQR: 16.0-23.0) and 19.0 (IQR: 17.0-22.0), respectively. However, participants with less experience, working for less than 5 years, had a median score of 12.0 (IQR: 8.5-16.5) (p < 0.001).
Knowledge scores of physicians representing various medical specialties found diverse levels regarding the ABCDE approach. Knowledge scores were significantly influenced by the primary area of practice, level of experience, and duration worked in the profession, highlighting the need for tailored training and education across different specialties and career stages. On the other hand, future studies should concentrate on finding new factors that influence practice adherence to the ABCDE approach and tying theoretical knowledge to clinical practice.
Increased demand for gas supply by industry in recent years has promoted the search for optimum strategies to evaluate the performance of dry gas and gas condensate reservoirs. Equations of state ...(EOS) have become a standard tool to predict the performance of these reservoirs. These EOS models are, however, highly dependent on accurate experimental data both to tune the EOS and to check their validity. The principal test of these is the constant volume depletion (CVD) experiment. Due to the design of PVT cells used, errors in CVD test data have continued to be noticed in some PVT reports. Therefore, better techniques are needed to improve the accuracy of these experimental tests, to support decision-making for gas and gas-condensate reservoirs. In this report, a new technique is proposed to correct the “most-suspicious” experimental data from CVD tests by using the results obtained from a partially tuned EOS package. This technique is applied to three CVD test data for gas-condensate samples collected from the gas cap of a major reservoir in the UAE.
Equations of State (EOS) are increasingly being used to model fluid properties of crude oil and gas reservoirs. This technique offers the advantage of an improved fluid property prediction over ...conventional black oil models. Once the crude oil or condensate fluid system has been probably characterized, its PVT behavior under a variety of conditions can easily be studied. This description is then used, within a compositional simulator, to study and choose among different scenarios for EOR schemes, such as miscible gas injection for oil reservoirs or liquid recovery under lean gas injection for condensate reservoirs. In this paper, crude oil from a reservoir in the United Arab Emirates (UAE) was characterized using the Peng–Robinson Equation of State (PR-EOS) to arrive at one EOS model that accurately describes the PVT behavior of crude oil produced from the different wells in the reservoir. The multi-sample characterization method is used to arrive at one consistent model for crude oil for the whole reservoir. The fluid samples are first analyzed for consistency to make sure that they are representative of oil produced, and then they are used to obtain parameters for EOS model. The tuning procedure for the EOS is done systematically by matching the volumetric and phase behavior results with laboratory results. Also, a consistent C
7+ pseudo-component split using the Whitson splitting method is used for all samples to arrive at a consistent model for crude oil for the whole reservoir. Results showed a very good match of PVT properties predicted using the EOS model with laboratory tests for this field. These results demonstrate the usefulness of the multi-sample method in providing one EOS model for the crude oil using PVT test results from different wells. The EOS model developed for this particular field may be used in reservoir simulation studies to optimize hydrocarbon recovery.
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