Megakaryocyte- and erythroblast-specific cell-free DNA patterns in plasma and platelets reflect thrombopoiesis and erythropoiesis levels.

Circulating cell-free DNA (cfDNA) fragments are a biological analyte with extensive utility in diagnostic medicine. Understanding the source of cfDNA and mechanisms of release is crucial for designing and interpreting cfDNA-based liquid biopsy assays. Using cell type-specific methylation markers as well as genome-wide methylation analysis, we determine that megakaryocytes, the precursors of anuclear platelets, are major contributors to cfDNA (~26%), while erythroblasts contribute 1-4% of cfDNA in healthy individuals.

Discrepancy between predicted and measured exercise intensity for eliciting the maximal rate of lipid oxidation.

Background And Aims: Ectopic lipid storage is implicated in type 2 diabetes pathogenesis; hence, exercise to deplete stores (i.e., at the intensity that allows for maximal rate of lipid oxidation; MLO) might be optimal for restoring metabolic health.

Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.

Objective: To develop novel fetal reference ranges for the characterization of the normal appearance of the Sylvian fissures (SF) along gestation and to apply them to fetuses with cortical abnormalities affecting the SF.

Methods: In this cross-sectional study, we used three-dimensional sonographic multiplanar reformatting (3D-MPR) to examine the fetal SF. Normal development was assessed in the second and third trimesters.

The COVID-19 pandemic and obsessive-compulsive disorder: a systematic review of comparisons between males and females.

Coronavirus disease, one of the most disastrous epidemics, has caused a worldwide crisis, and the containment measures applied to decelerate the progression of the pandemic can increase the risk of obsessive-compulsive disorder (OCD). Identifying vulnerable groups in this area can lead us to better resource expenditure, and therefore, this systematic review aims to make a comparison between males and females to determine which of the two groups was most affected by the COVID-19 pandemic regarding OCD. Also, a meta-analysis was designed to investigate the prevalence of OCD during the COVID-19 pandemic.

Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.

Background And Purpose: Medullary tegmental cap dysplasia is a rare brainstem malformation, first described and defined by James Barkovich in his book from 2005 as an anomalous mass protruding from the posterior medullary surface. We describe the neuroimaging, clinical, postmortem, and genetic findings defining this unique malformation.

Materials And Methods: This is a multicenter, international, retrospective study.

Multi-Valvular Non-bacterial Thrombotic Endocarditis Causing Sequential Pulmonary Embolism, Myocardial Infarction, and Stroke: A Case Report and Literature Review.

Non-bacterial thrombotic endocarditis is an uncommon entity that tends to be related to malignancy or rheumatological disorders. The diagnosis is complex and requires a high index of suspicion. It commonly causes recurrent emboli; however, coronary embolism remains an infrequently reported entity.

A universal cell-free DNA approach for response prediction to preoperative chemoradiation in rectal cancer.

The standard treatment approach for stage II/III rectal cancer is neoadjuvant chemoradiation therapy (nCRT) followed by surgery. In recent years, new treatment approaches have led to higher rates of complete tumor eradication combined with organ-preservation strategies. However, better tools are still needed to personalize therapy for the individual patient.

Whole body lipid oxidation during exercise is impaired with poor insulin sensitivity but not with obesity per se.

Equivocal findings regarding the influence of overweight/obesity on exercise lipid-oxidizing capacity (EX-LIPOX) might reflect inadequate control of ) acute energy balance/macronutrient composition of diet; ) intensity/duration of exercise; and/or ) insulin sensitivity (IS) of participant. To assess independent/combined influences of IS and overweight/obesity with other factors controlled, we recruited sedentary adults with normal weight (NW; = 15) or overweight/obesity (O; = 15) subdivided into metabolically healthy (MH; = 8) and unhealthy (MU; = 7) groups (IS; MH > MU). Participants completed a 9-day, weight-stabilizing, controlled-feeding protocol comprising measurements of resting metabolism, body composition, oral glucose tolerance, and maximal exercise capacity.

The acute vs. chronic effect of exercise on insulin sensitivity: nothing lasts forever.

Regular exercise causes chronic adaptations in anatomy/physiology that provide first-line defense for disease prevention/treatment ('exercise is medicine'). However, transient changes in function that occur following each exercise bout (acute effect) are also important to consider. For example, in contrast to chronic adaptations, the effect of exercise on insulin sensitivity is predominantly rooted in a prolonged acute effect (PAE) that can last up to 72 h.

Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly.

Objectives: To describe the prenatal neuroimaging spectrum of rhombencephalosynapsis (RES) and criteria for its classification according to the severity of vermian anomaly.

Methods: In this multicenter retrospective study of fetuses with RES between 2002 and 2020, the medical records and brain ultrasound and magnetic resonance images were evaluated comprehensively to determine the severity of the vermian anomaly and the presence of associated brain findings. RES was classified, according to the pattern of vermian agenesis and the extent of the fusion of the hemispheres, as complete RES (complete absence of the vermis) or partial RES (further classified according to the part of the vermis that was missing and, consequently, the region of hemispheric fusion, as anterior, posterior, severe or mixed RES).

Feasibility of a progressive protocol of high-intensity interval training for overweight/obese, sedentary African American women: a retrospective analysis.

Background: African American (AA) women have a higher prevalence of obesity and related metabolic dysfunction and lower level of physical activity compared to white counterparts. Determining feasible exercise alternatives for AA women is, therefore, paramount. Time-efficient high-intensity interval training (HIIT) might be particularly suited for AA women who cite time constraints as a frequent barrier to exercise adherence.

Investigation of immune cells on elimination of pulmonary-Infected COVID-19 and important role of innate immunity, phagocytes.

We identified types of immune cells that contribute to clearing COVID-19 during the acute phase of the infection in mouse model and human. Our results suggest that both innate and adaptive immune responses are essential for controlling COVID-19 infection. Mild infection report of children by COVID-19 comparing adults' infection causes conclusion of higher resistance of immune system of children comparing adults.

Severe-intensity constant-work-rate cycling indicates that ramp incremental cycling underestimates ⩒o2max in a heterogeneous cohort of sedentary individuals.

In the absence of a ⩒o2-work-rate plateau, debate continues regarding the best way to verify that the peak ⩒o2 achieved during incremental exercise (⩒o2peak) is the "true ⩒o2max." Oft-used "secondary criteria" have been questioned in conjunction with the contention that a severe-intensity constant-work-rate "verification bout" should be considered the "gold standard." The purpose of this study was to compare the ⩒o2peak during ramp incremental cycling (RAMP-INC) by a heterogeneous (with respect to body composition and sex) cohort of sedentary individuals with the ⩒o2peak during severe-intensity constant-work-rate cycling (CWR) performed after RAMP-INC at the highest work rate achieved.

Pregnancy and non-pregnancy related immune thrombotic thrombocytopenic purpura in women of reproductive age.

Pregnancy is a precipitating factor for immune thrombotic thrombocytopenic purpura (iTTP). We compared the clinical course and outcomes of iTTP in women of reproductive age, between those with pregnancy- and non-pregnancy-related iTTP. A review of all reproductive-aged women diagnosed with iTTP during 2010-2019 in seven university hospitals in Israel.

High-intensity interval training accelerates oxygen uptake kinetics and improves exercise tolerance for individuals with cystic fibrosis.

Background: Exercise training provides benefits for individuals with cystic fibrosis; however, the optimal program is unclear. High-intensity interval training is safe and effective for improving 'functional capacity' in these individuals with peak rate of O uptake typically referenced. The ability to adjust submaximal rate of oxygen uptake (V̇O kinetics) might be more important for everyday function because maximal efforts are usually not undertaken.

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

Objective: To describe fetal, clinical, radiological, morphological features of TUBB3 related syndrome.

Methods: We report two families each of two generations harboring a novel and a previously described heterozygous TUBB3 pathogenic variants. We compared these patients with other published TUBB3-related cases.

No Influence of Overweight/Obesity on Exercise Lipid Oxidation: A Systematic Review.

Compared to lean counterparts, overweight/obese individuals rely less on lipid during fasting. This deficiency has been implicated in the association between overweight/obesity and blunted insulin signaling via elevated intramuscular triglycerides. However, the capacity for overweight/obese individuals to use lipid during exercise is unclear.

A new risk model to predict time to first treatment in chronic lymphocytic leukemia based on heavy chain immunoparesis and summated free light chain.

Background: Chronic lymphocytic leukemia (CLL) is frequently accompanied by immune dysregulation.

Aims: In this multicenter prospective study, we investigated whether heavy + light chains (HLC: IgGκ, IgGλ, IgAκ, IgAκ, IgMκ, IgMλ) and IgG subclasses (IgG1, IgG2, IgG3, and IgG4) could be used as novel prognostic markers of immunoparesis in 105 treatment-naïve patients with CLL.

Results: Heavy + light chains immunoparesis of ≥1, ≥2, and ≥3 isotypes was evident in 74 (70%), 58 (55%), and 36 (34%) patients, respectively.

Ultrasound-Guided Botulinum Toxin Injections into the Salivary Glands for the Treatment of Drooling.

Background: Drooling is the unintentional loss of saliva from the mouth, usually caused by poor coordination of the swallowing mechanism. It is commonly seen in patients with chronic neurologic disorders, such as Parkinson's disease, amyotrophic lateral sclerosis (ALS), cerebral palsy, and stroke, as well as in patients with cognitive impairment and dementia.

Objectives: To evaluate the efficacy and safety of ultrasound-guided botulinum toxin injections into the parotid and submandibular salivary glands for the treatment of drooling.

Exercise as 'precision medicine' for insulin resistance and its progression to type 2 diabetes: a research review.

Type 2 diabetes and obesity epidemics are in effect in the United States and the two pathologies are linked. In accordance with the growing appreciation that 'exercise is medicine,' it is intuitive to suggest that exercise can play an important role in the prevention and/or treatment of these conditions. However, if exercise is to truly be considered as a viable alternative to conventional healthcare prevention/treatment strategies involving pharmaceuticals, it must be prescribed with similar scrutiny.

High-definition neural visualization of rodent brain using micro-CT scanning and non-local-means processing.

Background: Micro-CT holds promising potential for phenotyping and histological purposes. However, few have clarified the difference in the neuroimaging quality between ex vivo and in vivo micro-CT scanners. In addition, no direct comparison has been made between micro-CT scans and standard microscopy.

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.

Background: Dandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown.

Objective: To identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families.

Outcomes of second-line treatment after fludarabine cyclophosphamide and rituximab in patients with chronic lymphocytic leukemia outside clinical trials.

Objective: To evaluate disease characteristics and long-term outcomes in patients requiring second-line treatment following fludarabine, cyclophosphamide, and rituximab (FCR), for relapsed/refractory disease (R/R), or following discontinuation due to toxicities.

Method: A retrospective analysis of 126 chronic lymphocytic leukemia patients treated with frontline FCR: 63 received second-line treatment (41 relapsed, nine refractory [SD/PD], 13 prior toxicity). Time to next treatment (TTNT) was calculated from beginning FCR to initiation of second-line therapy.