Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.

In 2015, U.K. newborn screening (NBS) laboratory guidelines were introduced to standardize dried blood spot (DBS) specimen quality acceptance and specify a minimum acceptable DBS diameter of ≥7 mm.

Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.

Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear genetic component. While most SLE patients carry rare gene variants in lupus risk genes, little is known about their contribution to disease pathogenesis. Amongst them, SH2B3-a negative regulator of cytokine and growth factor receptor signaling-harbors rare coding variants in over 5% of SLE patients.

Understanding problematic substance use among first responders during the COVID-19 pandemic: A survey of law enforcement, fire, and EMS workers in the United States.

Background: First responders have experienced increased levels of stress, anxiety, and depression due to job-related pressures associated with the COVID-19 pandemic. However, little is known about the factors associated with first responder drug and alcohol use during this time.

Methods: We conducted a nationwide survey of first responders (n = 2801) to understand the relationship between work pressures, workplace support strategies, and problematic substance use during the early stages of the COVID-19 pandemic.

Use of Infliximab to Treat Paradoxical Tuberculous Meningitis Reactions.

We documented dramatic responses to infliximab in 4 tuberculous meningitis cases with severe paradoxical reactions after effective antibacterial treatment, despite high-dose steroids. In every instance, infliximab was used as a last resort after all other options were exhausted, resulting in delayed initiation that may have adversely affected patient outcomes.

Reproducibility of liver iron concentration estimates in MRI through R2* measurement determined by least-squares curve fitting.

Measuring transverse relaxation rate (R2* = 1/T2*) via MRI allows for noninvasive evaluation of multiple clinical parameters, including liver iron concentration (LIC) and fat fraction. Both fat and iron contribute to diffuse liver disease when stored in excess in the liver. This liver damage leads to fibrosis and cirrhosis with an increased risk of developing hepatocellular carcinoma.

Clinical characteristics of video-EEG patients: Limited utility of prolonging VEEG study duration beyond 5 days for spell classification.

Objective: The objective of the study was to identify the probability of establishing a diagnosis based on the duration of video-electroencephalogram (VEEG) monitoring. Additional aims were to determine whether there is a relationship between clinical characteristics of epilepsy monitoring unit (EMU) patients and VEEG results.

Methods: We studied EMU length of stay and assessed the utility of prolonging studies in patients who had not yet received a diagnosis.

Atopic dermatitis in adults: An Australian management consensus.

Background/objectives: Atopic dermatitis (AD) has significant negative impact on health-related quality of life, mood, sleep, work productivity and everyday activities. Research into the use of new drugs in the management of AD continues to develop, and international updates and recommendations have been published. However, questions remain in the Australian setting.

Neurogranin as a predictor of memory and executive function decline in MCI patients.

Objective: To determine whether high CSF levels of neurogranin (Ng) predict longitudinal decline in memory and executive function during early-stage Alzheimer disease (AD).

Methods: Baseline levels of CSF Ng were studied in relation to cross-sectional and longitudinal cognitive performance over 8 years. Data were obtained from the Alzheimer's Disease Neuroimaging Initiative database, and participants with normal cognition (n = 111) and mild cognitive impairment (MCI) (n = 193) were included.

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.

Objective: To provide outcome data concerning pregnancies exposed to the Interleukin-1 (IL-1) inhibitors prior to conception in both men and women, during pregnancy and breast feeding.

Methods: Retrospective data were collected from members of the International Society for Systemic Autoinflammatory diseases and collated in a single centre. A uniform data collection sheet was used to obtain standardized data including maternal age and diagnosis, type, duration of and response to IL-1 blockade, pregnancy duration, delivery, mode of feeding and neonatal development.

Role of Transbronchial Needle Aspiration (Conventional and EBUS Guided) in the Diagnosis of Histoplasmosis in Patients Presenting with Mediastinal Lymphadenopathy.

Objectives: The superior performance of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the diagnosis and staging of malignancy has been demonstrated, with some investigators suggesting the same for sarcoidosis. The role of EBUS-TBNA in the diagnosis of histoplasmosis is not clear, however. In this study we estimate the diagnostic yield of conventional TBNA (cTBNA) and EBUS-TBNA for the diagnosis of histoplasmosis in patients with mediastinal lymphadenopathy.

Pleural Small Cell Lung Carcinoma: An Unusual Culprit in Pleural Effusion.

Background: Small cell lung carcinoma (SCLC) usually presents as lung or mediastinal lesions. It is very rare for SCLC to present primarily as an isolated pleural effusion with no lung or mediastinal lesions.

Case Report: We report the case of a 77-year-old white male with a 60-pack year history of smoking, chronic obstructive pulmonary disease (stage IV), and asbestos exposure who presented with shortness of breath and left lateral chest pain for 7 days.

Wait!!! No Steroids for this Asthma….

Background: Strongyloides stercoralis (SS) is a parasite seen in certain parts of the USA and in people from other endemic areas. In these patients steroids might precipitate or exacerbate asthma. Apart from worsening of asthma, serious complications like hyperinfection syndrome and even death can occur in these patients if treated with steroids.

Management of cervical ectopic pregnancy with uterine artery embolization: a case report.

Background: Cervical ectopic pregnancy is a rare occurrence but carries the risk of life-threatening maternal hemorrhage.

Case: A 35-year-old woman, gravida 4 para 2, presented to the Emergency Room with the complaint of pelvic cramping and vaginal spotting. Initial quantitative serum beta-hCG value was 79,506.

Action plans to reduce hospitalizations for chronic obstructive pulmonary disease exacerbations: focus on oral corticosteroids.

Objective: Chronic obstructive pulmonary disease (COPD) is associated with a huge burden of suffering and healthcare expenditures. Patients hospitalized due to COPD have increased risk of death. Starting in 2015, reimbursements by the Centers for Medicaid Medicare Services will be significantly reduced to hospitals with excess 30 day readmissions for COPD.

Naturally occurring heterotopic pregnancy in a multiparous patient: a case report.

Background: Heterotopic pregnancy, or simultaneous intrauterine and extrauterine pregnancy, occurs rarely. Consequently, clinicians might not always consider a diagnosis of heterotopic pregnancy. Transvaginal ultrasound or other imaging modalities cannot be completely relied upon to exclude heterotopic pregnancy from the differential diagnosis of pregnant patients with abdominal pain.

Muckle-Wells cryopyrinopathy: complex phenotyping and response to therapy in a new multiplex kindred.

Muckle-Wells syndrome (MWS) is a member of the cryopyrin-associated periodic syndrome family of auto-inflammatory diseases, originally described as a triad of urticaria, sensorineural deafness and amyloidosis. IL-1 blockade is a proven therapy for MWS. The clinical, laboratory and genotypic characteristics of a novel kindred of five individuals with Muckle-Wells syndrome are described.

Pentoxifylline-induced drug rash with eosinophilia and systemic symptoms (DRESS) in a patient with caffeine intolerance.

Background: Drug rash with eosinophilia and systemic symptoms (DRESS) is a severe drug reaction characterised by rash, eosinophilia and systemic involvement.

Main Observations: We report a case of DRESS induced by pentoxifylline used for the treatment of severe alcoholic hepatitis, in a patient with longstanding caffeine intolerance. A history of intolerance to caffeine and other methylxanthines is listed as a contraindication to the use of pentoxifylline, yet this precaution is not mentioned in alcoholic hepatitis treatment guidelines.

Promoting learning and critical reflexivity through an organizational case study project.

Engaging students directly with community partners can foster deeper learning and critical reflexivity. In our undergraduate seminar in "Understanding Human Service Organizations," we developed a community-based project that has students working in groups to study local human service organizations. Students interview organizational staff, observe operations, and review documents to identify perceived organizational strengths and challenges and offer humble solutions based on course material and outside research.

Organocatalytic direct asymmetric crossed-aldol reactions of acetaldehyde in aqueous media.

A new type of diarylprolinol-based catalyst, which contains a dioctylamino group in the presence of a newly developed ionic liquid supported (ILS) benzoic acid as cocatalyst, is shown to be an effective catalytic system for the asymmetric direct crossed-aldol reaction of acetaldehyde in aqueous media using brine. For the reactions studied, the catalyst loading could be reduced to 5 mol %; high yields (up to 97%) and high enantioselectivities (up to 92% ee) were also achieved for a wide variety of aromatic aldehyde.

Asymmetric Michael reactions catalyzed by a highly efficient and recyclable quaternary ammonium ionic liquid-supported organocatalyst in aqueous media.

A novel ionic liquid-support organocatalyst, which contains the quaternary ammonium ion moiety, was recently developed and successfully applied to the asymmetric Michael reaction in the presence of a newly developed ionic liquid-supported (ILS) benzoic acid as co-catalyst. For the reactions studied, in which various aldehydes and nitroolefins were examined, excellent diastereo- and enantioselectivities were obtained with low catalyst loading. Also, the catalyst could be recycled for ten times without significant loss of enantioselectivity.

Abdominal pathology in patients with diabetes ketoacidosis.

Introduction: The objective is to describe the incidence and nature of significant abdominal pathologies in patients with diabetes ketoacidosis (DKA) and abdominal pain.

Methods: Retrospective chart review (N = 86) of patients with DKA from January 1, 2005, to January 31, 2010, was performed. Data included demographics, co-morbidities, compliance, chief complaints and physical findings, blood count, metabolic profile, lactic acid, glycosylated hemoglobin (HbAlC), amylase, lipase, anion gap, arterial gases, imaging and final diagnosis.

Highly enantioselective and recyclable organocatalytic Michael addition of malonates to α,β-unsaturated aldehydes in aqueous media.

A new type of pyrrolidine-based organocatalyst, which was developed earlier in our lab, has been found to be very effective for the Michael addition reaction in aqueous solvents involving a wide range of α,β-unsaturated aldehydes and malonate derivatives. For the reactions studied, good to excellent yields (73%-96%) and high to excellent enantioselectivities (up to 97%) were obtained using this catalyst. In addition, the catalyst could be recycled up to four times with gradual reductions in yields and enantioselectivity observed after the second cycle.

Changes versus homeostasis in alpine and sub-alpine vegetation over three decades in the sub-arctic.

Plant species distributions are expected to shift and diversity is expected to decline as a result of global climate change, particularly in the Arctic where climate warming is amplified. We have recorded the changes in richness and abundance of vascular plants at Abisko, sub-Arctic Sweden, by re-sampling five studies consisting of seven datasets; one in the mountain birch forest and six at open sites. The oldest study was initiated in 1977-1979 and the latest in 1992.