How-to: Focus Cardiac Ultrasound in acute settings.

Focus cardiac ultrasound (FoCUS) provides vital information at at the bedside which has the potential of improving outcomes in the acute settings. FoCUS could help the clinicians in their daily clinical decision-making while applied within the clinical context as an extension of bedside clinical examination. FoCUS practitioners should be aware of their own limitations with the importance of the timely referral for comprehensive Echocardiography whenever required.

Implementation of a mHealth solution to remotely monitor patients on a cardiac surgical waiting list: service evaluation.

Background: The emergence of COVID-19 resulted in postponement of nonemergent surgical procedures for cardiac patients in London. mHealth represented a potentially viable mechanism for highlighting deteriorating patients on the lengthened cardiac surgical waiting lists.

Objective: To evaluate the deployment of a digital health solution to support continuous triaging of patients on a cardiac surgical waiting list.

Muscle stimulation in advanced idiopathic pulmonary fibrosis: a randomised placebo-controlled feasibility study.

Objectives: To assess the acceptability of neuromuscular electrical stimulation (NMES) of the quadriceps muscles in people with idiopathic pulmonary fibrosis (IPF) and to identify whether a future definitive trial is feasible.

Design: A randomised, parallel, two-group, participant and assessor-blinded, placebo-controlled feasibility trial with embedded qualitative interviews.

Setting: Outpatient department, Royal Brompton and Harefield Hospitals.

The experiences and psychological outcomes for pregnant women who have had FGM: A systematic review.

Female genital mutilation (FGM) is a global issue, with 200 million women and girls thought to be affected. FGM is defined as removal of female external genitalia, either partial or total, for non-medical purposes. FGM is embedded in tradition, including cultural beliefs about sexual behaviour.

Telomeres in Interstitial Lung Disease.

Interstitial lung diseases (ILD) encompass a group of conditions involving fibrosis and/or inflammation of the pulmonary parenchyma. Telomeres are repetitive DNA sequences at chromosome ends which protect against genome instability. At each cell division, telomeres shorten, but the telomerase complex partially counteracts progressive loss of telomeres by catalysing the synthesis of telomeric repeats.

Aggregate Safety Assessment Planning for the Drug Development Life-Cycle.

The Program Safety Analysis Plan (PSAP) was proposed previously as a tool to proactively plan for integrated analyses of product safety data. Building on the PSAP and taking into consideration the evolving regulatory landscape, the Drug Information Association-American Statistical Association (DIA-ASA) Interdisciplinary Safety Evaluation scientific working group herein proposes the Aggregate Safety Assessment Plan (ASAP) process. The ASAP evolves over a product's life-cycle and promotes interdisciplinary, systematic safety planning as well as ongoing data review and characterization of the emerging product safety profile.

Rasmussen's encephalitis and central precocious puberty. Neuroendocrinological characterization of three cases.

Purpose: Rasmussen's encephalitis (RE) is a chronic neurological disorder characterized by inflammation of the cerebral cortex, mainly unilateral, that leads to drug-resistant epilepsy and progressive neurological impairment. Central Precocious Puberty (CPP) is uncommon, albeit increased in frequency in patients with neurological conditions and the physiopathological bases of these associations remains unclear in most cases. Epilepsy has been proposed to play a role, as well as the accumulation of substances produced as a result of metabolism or tissue degeneration in some neurodegenerative diseases.

Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.

Pathogenic mutations in NDUFAF4 have been reported in very few cases. Here we present new data to further delineate the phenotypic spectrum of NDUFAF4 deficiency. We describe two siblings presenting with facial dysmorphia and lactic acidosis in the neonatal period.

Identification of risk factors for involuntary psychiatric hospitalization: using environmental socioeconomic data and methods of machine learning to improve prediction.

Background: The purpose of this study was to identify factors associated with a high risk of involuntary psychiatric in-patient hospitalization both on the individual level and on the level of mental health services and the socioeconomic environment that patients live in.

Methods: The present study expands on a previous analysis of the health records of 5764 cases admitted as in-patients in the four psychiatric hospitals of the Metropolitan City of Cologne, Germany, in the year 2011 (1773 cases treated under the Mental Health Act and 3991 cases treated voluntarily). Our previous analysis had included medical, sociodemographic and socioeconomic data of every case and used a machine learning-based prediction model employing chi-squared automatic interaction detection (CHAID).

Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome.

Introduction: Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome with typical clinical features including seizures, chronic hemiplegia, hemianopsia and intellectual impairment. Progressive clinical decline may be attributable, at least in part, to progressive venous ischemia. Transcranial Doppler (TCD) ultrasonography could be useful to monitor the degree of hemodynamic involvement and its progression.

Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.

Mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) deficiency is a rare subtype of congenital disorders of protein N-glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene. The manifestation of MPI-CDG is different from other CDGs as the patients suffer dominantly from gastrointestinal and hepatic involvement whereas they usually do not present intellectual disability or neurological impairment.

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may co-occur with other motor, sensory, and cognitive impairment. A growing number of loci and genes are being identified, but still more than 50% of the patients remain without molecular diagnosis.

Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients.

There is growing evidence for inflammation as a cause and/or consequence of seizures in epilepsy as certain inflammatory biomarkers are elevated. Interleukin (IL)-6, with pro-inflammatory and epileptogenic effects, can perpetuate seizures. Clinical and experimental data support its involvement in acute refractory situations, with some cases responding to treatment with tocilizumab, a humanized monoclonal antibody against the IL-6 receptor.

Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.

Since the discovery of the FMR1 gene and the clinical and molecular characterization of Fragile X Syndrome in 1991, more than 141 genes have been identified in the X-chromosome in these 28 years thanks to applying continuously evolving molecular techniques to X-linked intellectual disability (XLID) families. In the past decade, array comparative genomic hybridization and next generation sequencing technologies have accelerated gene discovery exponentially. Classically, XLID has been subdivided in syndromic intellectual disability (S-XLID)-where intellectual disability (ID) is always associated with other recognizable physical and/or neurological features-and non-specific or non-syndromic intellectual disability (NS-XLID) where the only common feature is ID.

Incidence of CXCR4 tropism and CCR5-tropic resistance in treatment-experienced participants receiving maraviroc in the 48-week MOTIVATE 1 and 2 trials.

Unlabelled: Maraviroc blocks HIV-1 entry into CD4+ cells by interrupting the interaction between viral gp120 and cell-surface CCR5. Resistance to CCR5 antagonist–mediated inhibition can develop by unmasking pre-existing CXCR4-using virus or through selection of CCR5-tropic resistant virus, characterized by plateaus in maximum percent inhibition <95%. Here, we examine viral escape in maraviroc-treated participants during virologic failure through Week 48 in the MOTIVATE 1 and 2 trials.

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.

Purpose: Salts of phenylacetic acid (PAA) and phenylbutyric acid (PBA) have been used for nitrogen elimination as a treatment for hyperammonaemia caused by urea cycle disorders (UCD). A new analytical method for PBA measurement in urine which helps to evaluate the drug adherence has been implemented.

Methods: Urine specimens from UCD patients receiving PBA were analysed by tandem mass spectrometry to measure urine phenylacetylglutamine (PAGln).

Effects of the amino acid derivatives, β-hydroxy-β-methylbutyrate, taurine, and N-methyltyramine, on triacylglycerol breakdown in fat cells.

Various amino acid (AA) metabolites are used as supplements to facilitate metabolic control and enhance responsiveness of insulin-sensitive tissues. β-hydroxy-β-methylbutyrate (HMB) is a leucine metabolite proposed to prevent muscle wasting and to mitigate insulin resistance. Taurine, commonly added to energizing drinks, is a metabolite of methionine and cysteine present in bile juice, and proposed to be involved in lipid digestion and to be pro-lipolytic in adipocytes.

The Road to Improving Access to Surgical Specialist Consultations: Ontario's Experience with Wait 1 Wait Time Data.

In 2009, the Ontario Ministry of Health and Long-Term Care engaged Cancer Care Ontario to expand the Wait Time Information System to capture surgical consultation data (Wait 1). Over the years, an increasing number of patient and provider reports have shown that Wait 1 wait times account for a significant portion of the total wait time for surgery. With data published online by the ministry in late summer 2017, patients were given access to consultation wait time information for over 200 types of procedures at 92 surgical facilities in Ontario.

Refractive outcomes of femtosecond laser-assisted secondary arcuate incisions in patients with residual refractive astigmatism after trifocal intraocular lens implantations.

Purpose: To evaluate the refractive and visual outcomes of arcuate incisions performed with the femtosecond laser in patients with a residual refractive astigmatism after refractive lens exchange (RLE) with trifocal intraocular lenses (IOLs).

Setting: EuroEyes Clinical Group, Hamburg, Germany.

Design: Retrospective interventional case series.

Utilisation of hepatocellular carcinoma screening in Australians at risk of hepatitis B virus-related carcinoma and prescribed anti-viral therapy.

Aims And Objectives: To investigate hepatocellular carcinoma screening utilisation and factors associated with utilisation among patients prescribed hepatitis B virus anti-viral therapy and at risk of hepatocellular carcinoma.

Background: The incidence of hepatocellular carcinoma has increased in Australia over the past three decades with chronic hepatitis B virus infection a major contributor. hepatocellular carcinoma surveillance programs aim to detect cancers early enabling curative treatment options, longer survival and longer times to recurrence.

Functional Analyses of a Novel Splice Variant in the Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Mutations in have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in (c.