Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.

Recent advances in throughput and accuracy mean that the Oxford Nanopore Technologies PromethION platform is a now a viable solution for genome sequencing. Much of the validation of bioinformatic tools for this long-read data has focussed on calling germline variants (including structural variants). Somatic variants are outnumbered many-fold by germline variants and their detection is further complicated by the effects of tumour purity/subclonality.

The Developing Human Connectome Project: typical and disrupted perinatal functional connectivity.

The Developing Human Connectome Project is an Open Science project that provides the first large sample of neonatal functional MRI data with high temporal and spatial resolution. These data enable mapping of intrinsic functional connectivity between spatially distributed brain regions under normal and adverse perinatal circumstances, offering a framework to study the ontogeny of large-scale brain organization in humans. Here, we characterize in unprecedented detail the maturation and integrity of resting state networks (RSNs) at term-equivalent age in 337 infants (including 65 born preterm).

Risk of Thrombosis in Adult Philadelphia-Positive ALL Treated with an Asparaginase-Free ALL Regimen.

Background: venous thromboembolism (VTE) is a well-known complication in adults with acute lymphoblastic leukemia (ALL), especially in patients treated with asparaginase (ASNase)-including regiments. However, VTE risk in adult Philadelphia-positive ALL (Ph+ve ALL) patients treated with non-hyperCVAD chemotherapy is unclear. In this study, we examined VTE incidence in adult Ph+ve ALL patients treated with imatinib plus a pediatric-inspired asparaginase (ASNase)-free regimen modified from the Dana Farber Cancer Institute (DFCI) ALL protocol.

The Psychological and Physical Effects of Forests on Human Health: A Systematic Review of Systematic Reviews and Meta-Analyses.

The aim of this systematic review of systematic reviews was to identify, summarise, and synthesise the available evidence of systematic reviews (SRs) and meta-analyses (MAs) on the preventative and therapeutic psychological and physical effects of forest-based interventions. Both bibliographic databases and grey literature sources were searched for SRs and MAs published until May 2020. Eight databases were searched for relevant articles: MEDLINE, Embase, Web of Science, Cochrane Library, PsycInfo, CiNii, EBSCO, and Scopus.

Molecular response to imatinib in patients with chronic myeloid leukemia in Tanzania.

Imatinib is the mainstay of treatment of patients with chronic myeloid leukemia (CML) in Tanzania. Monitoring molecular response to therapy by real-time polymerase chain reaction at defined milestones is necessary for early detection of treatment failure. However, this assay is not routinely performed in Tanzania; therefore, the depth of molecular response among patients with CML is not known.

A 3-Week Naturopathic Intervention Improves HbA1c, Weight, and Quality of Life Among Overweight and Obese Adults With Type 2 Diabetes: 6-Month Results From a Randomized Trial.

Context: The "Oberstaufen Schrothkur," a traditional naturopathic treatment, has been shown to lead to metabolic improvement in adults with type 2 diabetes. However, data concerning its benefits are still limited.

Objective: The study aimed to investigate the effects of an Oberstaufen Schrothkur compared to a diabetes-friendly holiday in adults with type 2 diabetes.

Genome-wide association study identifies risk loci for progressive chronic lymphocytic leukemia.

Prognostication in patients with chronic lymphocytic leukemia (CLL) is challenging due to heterogeneity in clinical course. We hypothesize that constitutional genetic variation affects disease progression and could aid prognostication. Pooling data from seven studies incorporating 842 cases identifies two genomic locations associated with time from diagnosis to treatment, including 10q26.

Pie-crusting of proximal medial collateral ligament for correcting varus deformity in total knee arthroplasty.

Purpose: Aim of this study was to compare outcomes of a newer technique of pie-crusting of the femoral origin of medial collateral ligament (MCL) with the conventional medial release, for correcting varus deformity during total knee arthroplasty. Null hypothesis was that there is no difference in clinical outcomes between these two techniques.

Methods: All patients requiring an additional medial release after excision of osteophytes and release of deep MCL during total knee arthroplasty were allocated into two groups, alternately.

Empagliflozin does not change cardiac index nor systemic vascular resistance but rapidly improves left ventricular filling pressure in patients with type 2 diabetes: a randomized controlled study.

Background: In the EMPA-REG OUTCOME trial (Empagliflozin Cardiovascular Outcome Event Trial) treatment with the sodium-glucose cotransporter-2 (SGLT2) inhibitor empagliflozin significantly reduced heart failure hospitalization (HHF) in patients with type 2 diabetes mellitus (T2D) and established cardiovascular disease. The early separation of the HHF event curves within the first 3 months of the trial suggest that immediate hemodynamic effects may play a role. However, hitherto no data exist on early effects of SGLT2 inhibitors on hemodynamic parameters and cardiac function.

A Multimodal Stress-Prevention Program Supplemented by Telephone-Coaching Sessions to Reduce Perceived Stress among German Farmers: Results from a Randomized Controlled Trial.

This study compared the effectiveness of a 12-day stress-prevention program (SGS) supplemented by individualized, structured, four-session telephone-coaching to that of an SGS without telephone-coaching in entrepreneurs from the green professions presenting with increased stress levels. All participants went through the SGS before being randomized either to the telephone-coaching group (TC) or to the control group without telephone-coaching (noTC). SGS included four key therapeutic elements: stress-management intervention, relaxation, physical exercise, and balneotherapy.

Refractive and Visual Outcome of Misaligned Toric Intraocular Lens After Operative Realignment.

Purpose: The study was performed to evaluate the refractive and visual outcome of patients with misaligned toric intraocular lenses (IOLs) after operative realignment, with and without back-calculation of the toric axis after implantation of the IOL.

Design: Institutional, retrospective case-control study.

Methods: This is a retrospective case series of 39 patients who underwent a second operation to realign a misaligned toric IOL from August 2013 to December 2019 at the Department of Ophthalmology, Goethe University, Frankfurt, Germany.

Invasive Bacterial Infections in Afebrile Infants Diagnosed With Acute Otitis Media.

Objectives: To determine the prevalence of invasive bacterial infections (IBIs) and adverse events in afebrile infants with acute otitis media (AOM).

Methods: We conducted a 33-site cross-sectional study of afebrile infants ≤90 days of age with AOM seen in emergency departments from 2007 to 2017. Eligible infants were identified using emergency department diagnosis codes and confirmed by chart review.

Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression.

Hb Manitoba [α102(G9)Ser→Arg] is a rare α chain variant with diverse ethnic origins. It is mildly unstable with an expression of around 10.0-14.

Bioabsorbable Unsintered Hydroxyapatite/Poly-l-Lactic Acid Pin Fixation of Osteochondritis Dissecans in Adolescents: Initial Experiences.

Background: This study sought to retrospectively evaluate the clinical and magnetic resonance imaging (MRI) outcomes of u-HA/PLLA pin (u-HA/PLLA: hydroxyapatite/poly-L-lactic acid) pin fixation of unstable osteochondritis dissecans (OCD) lesions of the knee.

Methods: Seven adolescent patients (four females and three males) with arthroscopically unstable OCD lesions of the knee were included. The mean age at diagnosis was 13.

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.

The transformation of chronic lymphocytic leukemia (CLL) to high-grade B-cell lymphoma is known as Richter syndrome (RS), a rare event with dismal prognosis. In this study, we conducted whole-genome sequencing (WGS) of paired circulating CLL (PB-CLL) and RS biopsies (tissue-RS) from 17 patients recruited into a clinical trial (CHOP-O). We found that tissue-RS was enriched for mutations in poor-risk CLL drivers and genes in the DNA damage response (DDR) pathway.

Acetabulum fractures in elderly: A systematic review of fracture pattern and treatment.

Purpose: Acetabulum fractures are being increasingly seen with low impact injuries in elderly patients. This article aimed to study systematically literature on geriatric acetabulum fractures. Objectives of this systematic review were to study (1) demography of patients, common mechanisms of injury and types of fracture patterns commonly seen in elderly patients, (2) treatment used for these fractures in literature and (3) mortality rates in elderly with these fractures.

Comparison of variables measured with a Scheimpflug device for evaluation of progression and detection of keratoconus.

Keratoconus is a progressive ectatic corneal disorder, which can result in severe visual impairment. The new ABCD keratoconus classification system allows differentiated description of the disease. Aim of the study was to evaluate the components of this novel staging system (ARC, PRC, thinnest pachymetry) as well as topometric indices, deviation of normality indices, and other parameters in terms of repeatability and reliability.

The effect of airway motion and breathing phase during imaging on CFD simulations of respiratory airflow.

Rationale: Computational fluid dynamics (CFD) simulations of respiratory airflow can quantify clinically useful information that cannot be obtained directly, such as the work of breathing (WOB), resistance to airflow, and pressure loss. However, patient-specific CFD simulations are often based on medical imaging that does not capture airway motion and thus may not represent true physiology, directly affecting those measurements.

Objectives: To quantify the variation of respiratory airflow metrics obtained from static models of airway anatomy at several respiratory phases, temporally averaged airway anatomies, and dynamic models that incorporate physiological motion.