Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.

Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.

Microfluidics-enabled core/shell nanostructure assembly: Understanding encapsulation processes via particle characterization and molecular dynamics.

In the realm of hybrid nanomaterials, the construction of core/shell nanoparticles offer an effective strategy for encompassing a particle by a polymeric or other suitable material, leading to a nanocomposite with distinct features within its structure. The polymer shell can be formed via nanoprecipitation, optimized by manipulating fluid flow, fluid mixing, modulating device features in microfluidics. In addition to the process optimization, success of polymer assembly in encapsulation strongly lies upon the favorable molecular interactions originating from the diverse chemical environment shared between core and shell materials facilitating formation of core/shell nanostructure.

Older adults exhibit lesser smoothness despite increased caution than younger adults when navigating turns during walking.

Straight line walking currently dominates research into mechanisms associated with walking-related instability; however, the dynamics of everyday walking behavior are far more complex. The figure-8 walk test (F8W) is a clinically-feasible activity that focuses on turning mobility and provides a convenient and relevant task for understanding age-related differences in walking beyond our present knowledge of steady-state behavior. Our purpose was to investigate the effects of age (n = 30 older versus n = 31 younger adults) on path characteristics and the "smoothness" of turning mobility - herein measured via normalized center of mass jerk - during the F8W.

Association of experienced stigma in healthcare settings with health outcomes among Black women living with HIV: Mediating roles of internalized stigma, anticipated stigma, and trust in HIV care.

Background: Black women living with HIV (WLHIV) often have suboptimal ART adherence due to a multitude of social and structural barriers, including HIV-related stigma. Trust in healthcare providers plays a significant role in adhering to ART and is likely lower among Black WLHIV compared to their White counterparts. This study examined the relationship between experienced stigma in healthcare settings and ART adherence and viral suppression through anticipated stigma in healthcare settings, internalized stigma, and medical mistrust.

Insights into tumor-derived exosome inhibition in cancer therapy.

Exosomes are critical mediators of cell-to-cell communication in physiological and pathological processes, due to their ability to deliver a variety of bioactive molecules. Tumor-derived exosomes (TDEs), in particular, carry carcinogenic molecules that contribute to tumor progression, metastasis, immune escape, and drug resistance. Thus, TDE inhibition has emerged as a promising strategy to combat cancer.

Household income is independently associated with overall and cancer-specific survival after proctectomy for rectal cancer: A surveillance, epidemiology, and end results-based analysis.

Background: We assessed association among household income, overall survival (OS), and cancer-specific survival (CSS) after proctectomy for rectal cancer.

Methods: Population-based cohort study included stage I-III rectal adenocarcinoma patients who underwent proctectomy (2010-2020), subdivided by household income at diagnosis [low (<$50,000), average ($50,000-74,999), above-average (≥$75,000)] and compared.

Results: Of 39,185 patients (59 ​% male; mean age 60.

Rapid radiation of a plant lineage sheds light on the assembly of dry valley biomes.

Southwest China is characterized by high plateaus, large mountain systems, and deeply incised dry valleys formed by major rivers and their tributaries. Despite the considerable attention given to alpine plant radiations in this region, the timing and mode of diversification of the numerous dry valley plant lineages remain unknown. To address this knowledge gap, we investigated the macroevolution of Isodon (Lamiaceae), a lineage commonly distributed in the dry valleys in southwest China and wetter areas of Asia and Africa.

PROCERA interacts with JACKDAW in gibberellin-enhanced source-sink sucrose partitioning in tomato.

Proper regulation of the source-sink relationship is an effective way to increase crop yield. Gibberellin (GA) is an important regulator of plant growth and development, and physiological evidence has demonstrated that GA can promote source-sink sucrose partitioning. However, the underlying molecular mechanism remains unclear.

Synthesis of Glycosylphosphatidylinositol Analogues with an Unnatural -D-Glucosamine-(1→6)--Inositol Motif.

Glycosylphosphatidylinositol (GPI) anchors contain a unique α-D-glucosamine-(1→6)--inositol [αGlcN(1,6)Ins] motif in their conserved core structure. To facilitate investigations of the functional roles of this structural motif, two GPI analogues containing unnatural βGlcN(1,6)Ins, instead of αGlcN(1,6)Ins, and an alkyne group at different positions of the GPI core were designed and synthesized. To this end, an orthogonally protected pseudopentasaccharide derivative of GPIs with the βGlcN(1,6)Ins motif was convergently constructed via [3+2] glycosylation and used as the common intermediate to prepare both GPI analogues by streamlined synthetic protocols.

Virtual assessment of internal rotation in reverse shoulder arthroplasty based on statistical shape models of scapular size.

Background: The purpose of this study was to assess impingement-free internal rotation (IR) in a virtual reverse shoulder arthroplasty simulation using a Statistical Shape Model based on scapula size.

Methods: A database of over 10,000 scapulae utilized for preoperative planning for shoulder arthroplasty was analyzed with a Statistical Shape Model to obtain 5 scapula sizes including the mean and 2 standard deviations. For each scapula model, one glenosphere size (33-42 mm) was selected as the best fit based on consensus among 3 shoulder surgeons.

Improved patient reported outcomes with knotless double-row rotator cuff repair with and without lateral row biceps tenodesis at 2- and 5-years.

Background: The purpose of this study is to report outcomes of an arthroscopic knotless double-row (DR) rotator cuff repair (RCR) technique at 2- and 5- years postoperatively, and to compare clinical outcomes in patients undergoing knotless DR RCR with incorporated lateral row biceps tenodesis (LRT) vs. those without LRT.

Methods: All primary RCR surgeries were performed by a single surgeon at a single institution using a knotless transosseous equivalent (TOE) technique.

Perceptibility and Acceptability Thresholds for Color Differences in Ceramic Shade Tabs: A Comparison Between Dentists and Patients.

Background: The aim of this study was to evaluate the 50%:50% perceptibility thresholds (PT) and acceptability thresholds (AT) for color differences in ceramic shade tabs observed by dentists and patients using CIEDE2000 color difference formula.

Material And Methods: Twenty-two combinations of ceramic shade tabs from the VITA 3D Master shade guide were assembled to be used for the visual comparison analyses. The color difference between each shade tab pair was numerically determined by spectrophotometry using the VITA EasyShade V, and calculated using the CIEDE2000 formula (ΔE00).

Response to induction chemotherapy modifies the effect of conventional prognostic factors in high-risk neuroblastoma: A report from the Children's Oncology Group.

Background: Response to induction chemotherapy has been shown to predict outcome in patients with high-risk neuroblastoma (HR-NB), with those achieving a complete response (CR) having superior outcomes.

Methods: We evaluated whether conventional prognostic factors remain prognostic in subsets of patients defined by response to induction. 1244 Patients from four COG high-risk trials were included.

Progressive anterior segment involvement of an infant with corneoscleral juvenile xanthogranuloma refractory to topical steroids.

Purpose: To report a case of corneoscleral juvenile xanthogranuloma (JXG) with progressive anterior segment involvement refractory to topical steroids.

Observations: A 4-month-old male was referred for a new-onset subconjunctival lesion in the right eye. He was found to have a thickened, yellow corneoscleral lesion and hyphema, presumed to be ocular JXG.

Evaluating platelet concentrates by platelet indices, thromboelastography, and flow cytometry.

Introduction: Platelet transfusion has been therapeutically used in patients with thrombocytopenia and platelet function defects over the years. The use of advanced techniques may add value in assessing the quality of platelet products. The aim of the study was to assess stored platelet concentrates (PCs) prepared in blood banks for platelet indices, clot strength, and platelet function.

Chronic Kidney Disease-Associated Pruritus Burden: A Patient Survey Study.

Rationale & Objective: Chronic kidney disease-associated pruritus (CKD-aP) is a common, underrecognized condition in patients with chronic kidney disease (CKD), especially those receiving hemodialysis (HD). The present study analyzed the clinical treatment journey and overall burden of pruritus among patients with CKD-aP.

Study Design: Cross-sectional, patient-reported online survey.

Acute Kidney Injury Survivor Remote Patient Monitoring: A Single Center's Experience and an Effectiveness Evaluation.

Rationale & Objective: Remote patient monitoring (RPM) could improve the quality and efficiency of acute kidney injury (AKI) survivor care. This study described our experience with AKI RPM and characterized its effectiveness.

Study Design: A cohort study matched 1:3 to historical controls.

Centering historically minoritized populations to design effective messages about an evidence-based policy to advance social equity.

Researchers have raised concerns that messages describing racial disparities in social outcomes can reduce or polarize support for public policies to address inequality. We questioned this assumption by testing the impact of carefully crafted messages about child tax credit (CTC) expansion. We conducted two randomized message trials, study 1 using Prolific's nonprobability panel ( = 1,402) and study 2 using SSRS's Opinion Panel, a web-based probability sample of US adults ( = 4,483).

Cultural Effects on the Performance of Older Haitian Immigrants on Timed Cognitive Tests.

Background: Ignoring the cultural factors that can affect performance on cognitive tests may result in use of tests that have not been validated for that group. One example is testing of Haitian Creole speaking adults who are increasingly affected by Alzheimer's disease and related dementias, for whom few tests have been validated.

Aims: Our purpose is to describe differences in timed test performance between Haitian Creole and English-speaking participants and explore factors that may account for any differences in results found.

Modulating Interface of Ni-Embedded Hollow Porous TiCT MXene Film Toward Efficient EMI Shielding.

Since the explosive growth of state-of-the-art electronics and devices raises concerns about electromagnetic pollution, exploring novel and efficient electromagnetic interference (EMI) shielding materials is desirable and crucial. TiCT MXenes hold significant EMI shielding potential due to their inherent characteristics, including lightweight, metal-like conductivities, unique layered structure, and facile processing. Nonetheless, it remains challenging to fabricate TiCT MXenes-based EMI shielding materials with efficient shielding capability and low reflection.

Sacral tumors: a comprehensive review of imaging, diagnostic challenges, and tumor mimics.

The sacrum can harbor a diverse group of both benign and malignant tumors, including metastases. Primary tumors of the sacrum can arise from bone, cartilage, marrow, notochordal remnants, or surrounding nerves and vessels. Among a variety of primary tumors of the spine, chordoma, germ cell tumors and Ewing's sarcoma are recognized for their propensity to occur in the sacrum.

Propensity-score matched outcomes of minimally invasive and open pelvic exenteration in locally advanced rectal cancer.

Pelvic exenteration (PE) entails an en bloc resection of locally advanced primary or recurrent rectal cancer. This study aimed to assess the short-term and survival outcomes of minimally invasive (MI)- and open PE. A retrospective cohort analysis of patients with stage III rectal adenocarcinoma treated with PE from the National Cancer Database (2010-2019) was conducted.

Parosmia: Pathophysiology and Management.

Purpose Of Review: Parosmia is a qualitative olfactory disorder in which there is a mismatch between the memory of an odor and the actual experience triggered by an odor. There has been a surge in parosmia-related publications since the COVID-19 pandemic. This review summarizes the latest clinical findings, theories on pathophysiology and potential treatment options.