WDR44 Loss-of-Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype.

Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on a WDR44 loss-of-function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X-linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions.

Hypofractionated Radiotherapy followed by Hypofractionated Boost with weekly concurrent chemotherapy for Unresectable Stage III Non-Small Cell Lung Cancer: Results of A Prospective Phase II Study (GASTO-1049).

Purpose: We launched a prospective phase 2 clinical trial to explore the safety and efficacy of hypofractionated radiation therapy (hypo-RT) followed by hypofractionated boost (hypo-boost) combined with concurrent weekly chemotherapy in patients with unresectable locally advanced non-small cell lung cancer (LA-NSCLC).

Methods And Materials: Patients with newly diagnosed LA-NSCLC with unresectable stage III disease were recruited between June 2018 and June 2020. Patients were treated with hypo-RT (40 Gy in 10 fractions) followed by hypo-boost (24-28 Gy in 6-7 fractions) combined with concurrent weekly chemotherapy (docetaxel 25 mg/m and nedaplatin 25 mg/m).

CT radiomics-based long-term survival prediction for locally advanced non-small cell lung cancer patients treated with concurrent chemoradiotherapy using features from tumor and tumor organismal environment.

Background: Definitive concurrent chemoradiotherapy (CCRT) is the standard treatment for locally advanced non-small cell lung cancer (LANSCLC) patients, but the treatment response and survival outcomes varied among these patients. We aimed to identify pretreatment computed tomography-based radiomics features extracted from tumor and tumor organismal environment (TOE) for long-term survival prediction in these patients treated with CCRT.

Methods: A total of 298 eligible patients were randomly assigned into the training cohort and validation cohort with a ratio 2:1.

Efficacy of Thymosin α1 in Management of Radiation Pneumonitis in Patients With Locally Advanced Non-Small Cell Lung Cancer Treated With Concurrent Chemoradiotherapy: A Phase 2 Clinical Trial (GASTO-1043).

Purpose: To evaluate the efficacy of thymosin α1 in management of radiation pneumonitis (RP) in patients with locally advanced non-small cell lung cancer (LANSCLC) treated with concurrent chemoradiotherapy (CCRT).

Methods And Materials: This phase 2, single-arm trial enrolled patients with unresectable LANSCLC of 18 to 75 years' old and an Eastern Cooperative Oncology Group performance status of 0 to 1. Eligible patients received definitive CCRT and weekly thymosin α1 from the start of CCRT until 2 months after CCRT.

The multivariable prognostic models for severe complications after heart valve surgery.

Background: To provide multivariable prognostic models for severe complications prediction after heart valve surgery, including low cardiac output syndrome (LCOS), acute kidney injury requiring hemodialysis (AKI-rH) and multiple organ dysfunction syndrome (MODS).

Methods: We developed multivariate logistic regression models to predict severe complications after heart valve surgery using 930 patients collected retrospectively from the first affiliated hospital of Sun Yat-Sen University from January 2014 to December 2015. The validation was conducted using a retrospective dataset of 713 patients from the same hospital from January 2016 to March 2017.

Hypofractionated Intensity Modulated Radiation Therapy With Concurrent Chemotherapy in Locally Advanced Non-Small Cell Lung Cancer: A Phase II Prospective Clinical Trial (GASTO1011).

Purpose: We aimed to explore the efficacy and toxicity of split-course hypofractionated radiation therapy with concurrent chemotherapy (HRT-CHT) in patients with locally advanced non-small cell lung cancer (LANSCLC) in this single-arm, phase II study.

Methods And Materials: Patients with LANSCLC were considered eligible if their forced expiratory volume in 1 second/forced vital capacity (FEV/FVC%) and carbon monoxide diffusing capacity (DLCO%) were ≥40% and ≥45%, respectively. HRT-CHT using the intensity modulated radiation therapy technique was administered with 51 Gy in 17 fractions as the first course followed by a break.

Increased glucose variability is associated with major adverse events in patients with infective endocarditis undergo surgical treatment.

Background: This study aimed to investigate the prognostic value of glucose variability (GV) in predicting postoperative major adverse events (MAEs) in patients with infective endocarditis (IE) who underwent surgical treatment.

Methods: This retrospective observational study included a total of 381 consecutive patients who underwent surgical treatment in our institution from October 2007 to August 2019. The MAEs included all-cause death, stroke, myocardial infarction, acute heart failure, IE recurrence, acute renal failure and sepsis.

Sleep medicine durable medical equipment management during the COVID-19 pandemic: our center's initial experience.

Pusalavidyasagar S, Silbernick E, Stachel E, Xiong M, Iber C. Sleep medicine durable medical equipment management during COVID-19 pandemic: our center’s initial experience. .

Chylothorax and constrictive pericarditis in a woman due to generalized lymphatic anomaly: a case report.

Background: Generalized lymphatic anomaly (GLA) is characterized by diffuse or multicentric proliferation of dilated lymphatic vessels resembling common lymphatic malformations. Compared with soft tissue or bone involvement, thoracic involvement may be associated with a worse prognosis.

Case Presentation: We reported a case of GLA with chylothorax and constrictive pericarditis in a 29-year-old woman.

Somali, Latino and Hmong parents' perceptions and approaches about raising healthy-weight children: a community-based participatory research study.

Objective: Immigrants in the USA are confronted with health disparities, including childhood obesity and obesity-related chronic diseases. We aimed to identify perceptions of childhood body weight, approaches to raising healthy children and desires for supportive programmes of Somali, Latino and Hmong (SLM) parents in the Twin Cities, Minnesota, USA.

Design: Using community-based participatory research, ten focus groups (FG) were conducted with sixty-seven parents (n 28 Somali, three FG; n 19 Latino, four FG; n 20 Hmong, three FG) of 3-12-year-old children in their native language.

Large left circumflex coronary artery with a fistula to superior vena cava: Diagnosis by echocardiography.

The left circumflex coronary artery associated with a fistula to superior vena cava is a rare entity. We describe a 7-year-old girl who presented with a cardiac murmur and was diagnosed with a coronary artery fistula between the left circumflex artery and superior vena cava by echocardiography. The surgical occlusion of the fistula was successful.

Heading Date QTL in Winter Wheat (Triticum aestivum L.) Coincide with Major Developmental Genes VERNALIZATION1 and PHOTOPERIOD1.

In wheat (Triticum aestivum L.), time from planting to spike emergence is influenced by genes controlling vernalization requirement and photoperiod response. Characterizing the available genetic diversity of known and novel alleles of VERNALIZATION1 (VRN1) and PHOTOPERIOD1 (PPD1) in winter wheat can inform approaches for breeding climate resilient cultivars.

Potential for microbial oxidation of ferrous iron in basaltic glass.

Basaltic glass (BG) is an amorphous ferrous iron [Fe(II)]-containing material present in basaltic rocks, which are abundant on rocky planets such as Earth and Mars. Previous research has suggested that Fe(II) in BG can serve as an energy source for chemolithotrophic microbial metabolism, which has important ramifications for potential past and present microbial life on Mars. However, to date there has been no direct demonstration of microbially catalyzed oxidation of Fe(II) in BG.

Genome-wide association study reveals novel quantitative trait Loci associated with resistance to multiple leaf spot diseases of spring wheat.

Accelerated wheat development and deployment of high-yielding, climate resilient, and disease resistant cultivars can contribute to enhanced food security and sustainable intensification. To facilitate gene discovery, we assembled an association mapping panel of 528 spring wheat landraces of diverse geographic origin for a genome-wide association study (GWAS). All accessions were genotyped using an Illumina Infinium 9K wheat single nucleotide polymorphism (SNP) chip and 4781 polymorphic SNPs were used for analysis.

Fe-phyllosilicate redox cycling organisms from a redox transition zone in Hanford 300 Area sediments.

Microorganisms capable of reducing or oxidizing structural iron (Fe) in Fe-bearing phyllosilicate minerals were enriched and isolated from a subsurface redox transition zone at the Hanford 300 Area site in eastern Washington, USA. Both conventional and in situ "i-chip" enrichment strategies were employed. One Fe(III)-reducing Geobacter (G.

Simvastatin attenuates pulmonary vascular remodelling by down-regulating matrix metalloproteinase-1 and -9 expression in a carotid artery-jugular vein shunt pulmonary hypertension model in rats.

Objectives: It remains controversial as to whether simvastatin has a beneficial effect on pulmonary artery hypertension. This study aimed to explore the efficacy of simvastatin on haemodynamic changes, pulmonary vascular remodelling and expression of matrix metalloproteinase-1 and -9 (MMP-1,9) in a carotid artery-jugular vein (CA-JV) shunt pulmonary artery hypertension (PAH) model in rats.

Methods: Thirty-six Sprague-Dawley rats were randomized into three groups: Control group, CA-JV group, and Treatment group.

Isolation of phyllosilicate-iron redox cycling microorganisms from an illite-smectite rich hydromorphic soil.

The biogeochemistry of phyllosilicate-Fe redox cycling was studied in a Phalaris arundinacea (reed canary grass) dominated redoximorphic soil from Shovelers Sink, a small glacial depression near Madison, WI. The clay size fraction of Shovelers Sink soil accounts for 16% of the dry weight of the soil, yet contributes 74% of total Fe. The dominant mineral in the clay size fraction is mixed layer illite-smectite, and in contrast to many other soils and sediments, Fe(III) oxides are present in low abundance.

Fibrosis of pulmonary vascular remodeling in carotid artery-jugular vein shunt pulmonary artery hypertension model of rats.

Objective: The aim of the present study was to observe the changes of hemodynamics, stereology in pulmonary vascular remodeling and messenger RNA (mRNA) expressions of transforming growth factor beta 1, and receptors in carotid artery-jugular vein (CA-JV) shunt pulmonary artery hypertension model of rats.

Methods: Thirty-six Sprague-Dawley rats were randomized into three groups: CA-JV group, monocrotaline (MCT) administration group, and control group. Left CA-JV shunts were established in CA-JV group.

Aortic arch reconstruction with an autologous pulmonary arterial-roll tube in an interrupted aortic arch.

We report a case of aortic arch reconstruction with an autologous pulmonary arterial-roll tube in a 4-year-old child with a type A interrupted aortic arch. The autologous pulmonary arterial-roll tube dilated progressively after the operation, and some severe complications occurred, including formation of an aneurysm. A second operation was performed to resect the aortic aneurysm and to interpose a Dacron tube graft.

Studies on pentoxifylline and tocopherol combination for radiation-induced heart disease in rats.

Purpose: To investigate whether the application of pentoxifylline (PTX) and tocopherol l (Vit. E) could modify the development of radiation-induced heart disease and downregulate the expression of transforming growth factor (TGF)-beta1mRNA in rats.

Methods And Materials: A total of 120 Sprague-Dawley rats were separated into four groups: control group, irradiated group, experimental group 1, and experiment group 2.

[Correlation of TGF-beta1 mRNA expression to irradiation-induced heart damage in rats].

Background & Objective: Radiation-induced heart damage is one of the prognostic factors of the patients who had received radiation to the mediastinum. This study was to investigate the correlation of transforming growth factor-beta1 (TGF-beta1) mRNA expression to the radiation response of the heart in rats, in order to provide references for further study on irradiation-induced heart damage.

Methods: Sixty Sprague-Dawley rats were divided into 2 groups: the 30 rats in irradiation group were irradiated with 20 Gy on the heart; the 30 rats in control group received no irradiation.