Validation of heat-inducible HSP70 and tick-specific 3xP3 promoters in ISE6 cells.

is an important vector of many pathogens, including the causative agent of Lyme disease. The gene function studies in and other ticks are hampered by the lack of genetic tools, including an inducible promoter for temporal control over transgene-encoding protein or double-stranded RNA. We characterized an intergenic sequence upstream of a heat shock protein 70 (HSP70) gene that can drive luciferase and mCherry expression in the cell line ISE6 (IsHSP70).

Validation of a heat-inducible HSP70 promoter and developing a tick-specific 3xP3 promoter sequence in ISE6 cells.

is an important vector of many pathogens, including the causative agent of Lyme disease, tick-borne encephalitis, and anaplasmosis. The study of gene function in and other ticks has been hampered by the lack of genetic tools, such as an inducible promoter to permit temporal control over transgenes encoding protein or double-stranded RNA expression. Studies of vector-pathogen relationships would also benefit from the capability to activate anti-pathogen genes at different times during pathogen infection and dissemination.

Cas9-mediated gene editing in the black-legged tick, , by embryo injection and ReMOT Control.

Despite their capacity to acquire and pass on an array of debilitating pathogens, research on ticks has lagged behind other arthropod vectors, such as mosquitoes, largely because of challenges in applying available genetic and molecular tools. CRISPR-Cas9 is transforming non-model organism research; however, successful gene editing has not yet been reported in ticks. Technical challenges for injecting tick embryos to attempt gene editing have further slowed research progress.

Properdin Deficiency Impairs Phagocytosis and Enhances Injury at Kidney Repair Phase Post Ischemia-Reperfusion.

Properdin, a positive regulator of complement alternative pathway, participates in renal ischemia-reperfusion (IR) injury and also acts as a pattern-recognition molecule affecting apoptotic T-cell clearance. However, the role of properdin in tubular epithelial cells (TECs) at the repair phase post IR injury is not well defined. This study revealed that properdin knockout (P) mice exhibited greater injury in renal function and histology than wild-type (WT) mice post 72-h IR, with more apoptotic cells and macrophages in tubular lumina, increased active caspase-3 and HMGB1, but better histological structure at 24 h.

Autologous matrix-induced chondrogenesis and bone marrow aspirate concentrate compared with microfracture for arthroscopic treatment of femoroacetabular impingement and chondral lesions of the hip: bridging the osteoarthritis gap and facilitating enhanced recovery.

In an attempt to bridge the osteoarthritis (OA) gap, this study compared biological reconstruction with traditional microfracture (MF) techniques in patients with femoroacetabular impingement and focal cartilage defects. Cohorts of two groups were investigated; age, gender and Tonnis grade matched comparison for outcomes between MF and newer biological reconstruction techniques hip arthroscopy surgery using autologous matrix-induced chondrogenesis and bone marrow aspirate combination. Outcomes investigated were pre-op and post-op mean iHOT-12 scores up to 18 months after surgery with a Kaplan-Meier survivorship analysis.

Coronary artery aneurysms: outcomes following medical, percutaneous interventional and surgical management.

Background: Coronary artery aneurysms (CAAs) are increasingly diagnosed on coronary angiography; however, controversies persist regarding their optimal management. In the present study, we analysed the long-term outcomes of patients with CAAs following three different management strategies.

Methods: We performed a retrospective review of patient records with documented CAA diagnosis between 2000 and 2005.

Primary acquired gastric outlet obstruction in children: A retrospective single center study.

Background/ Purpose: Idiopathic hypertrophic pyloric stenosis is by far the most common cause of gastric outlet obstruction (GOO) in young infants, with more than 90% of cases presenting between 3 and 10 weeks after birth. While cases of late onset pyloric stenosis beyond infancy have been reported, the etiology is poorly understood. We report our experience of 5 cases, describing the similarities and differences in management of our patient population which happens to be the second largest reported in literature.

Early to mid-term outcome of Oxinium on Verilast highly cross-linked polyethylene bearing surface in uncemented total hip arthroplasty.

Introduction: We report 5- to 10-year clinical and radiological outcomes of a series of uncemented Oxinium on Verilast (highly cross-linked polyethylene liners) total hip replacements (THAs) using the Anthology stem and R3/Reflection cup system.

Methods: 116 THAs were performed by 2 senior authors in 104 patients from 2005 to 2009. The mean age at time of operation was 63.

A prospective study of evaluation of operative duration as a predictor of mortality in pediatric emergency surgery: Concept of 100 minutes laparotomy in resource-limited setting.

Introduction: Operative duration is an important but under-studied predictor of mortality in emergency laparotomies.

Aims And Objectives: The primary objective of this study was to quantify the effect of duration of emergency laparotomy in children on mortality; and to identify a rough cut-off duration of laparotomy to serve as a guide so that a laparotomy can be planned to optimize pediatric surgical patient outcome.

Materials And Methods: This is a prospective study conducted in a government tertiary teaching institution over a period of 24 months.

Reduced proximal tubular expression of protein endocytic receptors in proteinuria is associated with urinary receptor shedding.

Background: Filtered proteins, including albumin, are reabsorbed in the proximal tubule (PT) mediated by megalin, cubilin and the neonatal Fc receptor (FcRn). Proteinuria is an important renal biomarker linked to poor prognosis but expression of these key receptors is not well studied.

Methods: Megalin expression was determined at protein and messenger RNA (mRNA) levels in kidneys from proteinuric patients, and the expression of megalin, cubilin and FcRn was examined in the kidneys of mice with protein-overload proteinuria.

Pleiotropic effect of a novel mutation in causing congenital cataract and a rare adult i blood group phenotype.

Mutations in have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.

The role of the intermediate care team in detecting and responding to loneliness in older clients.

The intermediate care team supports patients in their own homes to manage complex needs. They are ideally placed in the community to identify older adults at risk of loneliness. However, little is known about how intermediate care team professionals perceive, detect or respond to loneliness in their clients.

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.

In 2013, as part of our genetic investigation of patients with inherited retinal disease, we utilized multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS) accredited laboratory. The results of all multigene panel tests requested between 1.

Clinical and molecular characteristics of childhood-onset Stargardt disease.

Purpose: To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD).

Design: Retrospective case series.

Participants: Forty-two patients who were diagnosed with STGD in childhood at a single institution between January 2001 and January 2012.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Mutations in the OPN1LW (L-) and OPN1MW (M-)cone opsin genes underlie a spectrum of cone photoreceptor defects from stationary loss of color vision to progressive retinal degeneration. Genotypes of 22 families with a range of cone disorders were grouped into three classes: deletions of the locus control region (LCR); missense mutation (p.Cys203Arg) in an L-/M-hybrid gene; and exon 3 single-nucleotide polymorphism (SNP) interchange haplotypes in an otherwise normal gene array.

Ceramic-on-ceramic bearings in young patients: outcomes and activity levels at minimum ten-year follow-up.

We report the clinical and radiological outcomes of a series of contemporary cementless ceramic-on-ceramic total hip replacements (THRs) at ten years in patients aged ≤ 55 years of age. Pre- and post-operative activity levels are described. A total of 120 consecutive ceramic cementless THRs were performed at a single centre in 110 patients from 1997 to 1999.

Retinal structure and function in achromatopsia: implications for gene therapy.

Purpose: To characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical trials of gene therapy.

Design: Cross-sectional study.

Participants: Forty subjects with ACHM.

Vanishing corneal vessels.

We wish to highlight the importance of acknowledging the accompanying effects of topical phenylephrine drops on the eye other than its intended mydriasis. We reported a case of a 92-year-old woman with a corneal graft who was noted to have superficial corneal vascularisation which was not documented previously. After the instillation of topical tropicamide 1% and phenylephrine 2.

ABCA4 gene screening by next-generation sequencing in a British cohort.

Purpose: We applied a recently reported next-generation sequencing (NGS) strategy for screening the ABCA4 gene in a British cohort with ABCA4-associated disease and report novel mutations.

Methods: We identified 79 patients with a clinical diagnosis of ABCA4-associated disease who had a single variant identified by the ABCA4 microarray. Comprehensive phenotypic data were obtained, and the NGS strategy was applied to identify the second allele by means of sequencing the entire coding region and adjacent intronic sequences of the ABCA4 gene.

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

Purpose: To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype.

Design: Retrospective case series.

Methods: The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease.

Use of cone-beam computed tomography in the diagnosis of sensory nerve paresthesia secondary to orthodontic tooth movement: a clinical report.

In this article, we report an incident of transient neuropathy secondary to tooth movement involving the inferior alveolar nerve. This clinical report reflects the need to thoroughly examine potentially high-risk patients for neuropathy using advanced diagnostic tools such as cone-beam computed tomography when diagnosing and planning treatment.

Congenital rectovestibular fistula associated with rectal atresia: A rare occurrence.

We report a rare variety of anorectal malformation, rectal atresia associated with rectovestibular fistula. The case was successfully treated by posterior sagittal repair. The fistula was mobilized and the continuity of the rectum was established by circumferential anastomosis.

Diagnostic value of ultrasonography in evaluation and management of acute abdominal conditions in the paediatric age group.

Background: The aims of this study have been elaborated below: (1) to enumerate the common causes of acute abdominal emergencies by ultrasonography in paediatric patients; (2) to establish the diagnostic efficacy of ultrasonography in evaluation of acute abdominal conditions in children and to illustrate the associated ultrasonographic findings; (3) and, to discuss the role of ultrasonography in guiding the mode of intervention in these cases.

Patients And Methods: This prospective study of ultrasonographic examination in 146 paediatric patients presenting with acute onset abdominal pain at the emergency/paediatric outpatient department section of Jawaharlal Nehru Medical College & Hospital, Aligarh, between June 2006 and December 2007, using 3.75 MHz and 8 MHz transducers of the ADARA (Siemens) machine.