Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.

May Measurement Month 2019: an analysis of blood pressure screening results from the United Kingdom and Republic of Ireland.

In the UK, heart and circulatory diseases account for 29% of all deaths (14% through coronary heart disease and 8% through stroke). In 2015, the prevalence of hypertension was 20% in the UK and 23% in the Republic of Ireland. In 2019, 14% of people registered with a UK general practice had hypertension and yet it was the attributable risk factor for around half of all deaths from coronary heart disease or stroke.

ST elevation in a patient with small bowel occlusion and gastric distension-What is the most likely explanation? A hypothesis generating case report.

We report a case of ST segment elevation and PR depression in inferolateral leads in a patient with small bowel occlusion and gastric distension that disappeared immediately after gastric evacuation. Contrary to prior reports, we believe that these ECG changes do not represent an intrinsic cardiac electrical abnormality, but are likely artefactual. We hypothesise that the accumulated air between the heart, lower limbs and left precordial electrodes result in a significant departure from the simplified assumptions of standard 12 lead ECG analysis (that the electrical activity of the heart can be described by an electrical dipole at a fixed location in an electrical homogeneous sphere) in such a way that the ECG filtering process will not compensate for this bias and will artificially create the ECG pattern described in this report.

Point-of-care echocardiographic screening for left-sided valve heart disease: high yield and affordable cost in an elderly cohort recruited in primary practice.

Background: Data about the epidemiology of valvular heart disease (VHD) in the elderly is scarce. Hand-held ultrasound devices (HUDs) enable point-of-care ultrasound scanning (POCUS) but their use in an elderly population has not been reported for VHD screening in primary practice.

Methods: One hundred consecutive subjects aged >70 years without a VHD diagnosis had 2D and colour Doppler POCUS by an accredited sonographer, using a contemporary HUD (Vscan), in a primary practice setting.

Hand-held ultrasonography: An opportunity for "hands-on" teaching of medicine.

This article was migrated. The article was marked as recommended. As ultrasound offers students an opportunity to study anatomy, physiology and pathophysiology actively, we used hand-held ultrasound (HHU) devices to augment current teaching of cardiac murmurs and pathology.

Do left atrial strain and strain rate reflect intrinsic atrial function, or are they determined by left ventricular function?

Background: Left atrial (LA) strain (S) and strain rate (SR) are reported as measures of intrinsic function.

Aim: Since the LA and left ventricle (LV) are connected through the mitral annulus, we investigated: (1) if deformation indices in the LA are mostly predicted by deformation of the LV; (2) if timings of S and SR events are similar in both the LA and LV; and (3) if alteration of S and SR in patients with primarily LV dysfunction would be similar in the LA and LV.

Methods: We retrospectively assessed 50 asymptomatic women (Group 1) and 20 patients with recent (< 96 h) acute pulmonary oedema (10 women) (Group 2).

Attenuated Salmonella enterica serovar Typhi expressing urease effectively immunizes mice against Helicobacter pylori challenge as part of a heterologous mucosal priming-parenteral boosting vaccination regimen.

Recombinant vaccine strains of Salmonella enterica serovar Typhi capable of expressing Helicobacter pylori urease were generated by transforming strains CVD908 and CVD908-htrA with a plasmid harboring the ureAB genes under the control of an in vivo-inducible promoter. The plasmid did not interfere with the ability of either strain to replicate and persist in human monocytic cells or with their transient colonization of mouse lungs. When administered to mice intranasally, both recombinant strains elicited antiurease immune responses skewed towards a Th1 phenotype.