Publications by authors named "Wawrzynski J"

Introduction: We designed a race-conscious study to assess the presence of Helicobacter pylori v irulence factor cagA in a retrospective cohort of patients with active H. pylori infection.

Methods: We compared cagA status by race in gastric tissue samples from 473 patients diagnosed with active H.

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Purpose Of Review: This paper provides an update on intravitreal (IVT) enzyme replacement therapy (ERT) in metabolic retinal diseases; particularly neuronal ceroid lipofuscinosis type 2 (CLN2) also known as Batten disease.

Recent Findings: ERT is being explored in CLN2 related Batten disease, a fatal neurodegenerative condition associated with retinopathy and blindness that is caused by the deficiency of lysosomal enzyme TPP1. Cerliponase alfa, a recombinant human tripeptidyl-peptidase1 (rhTPP1) administered by intraventricular infusions has been demonstrated to slow the rate of neurodegenerative decline but not retinopathy.

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Background/objectives: CLN2 Batten Disease is a fatal neurodegenerative condition of childhood associated with retinal dystrophy and blindness. Intracerebroventricular infusion of rhTPP1 greatly slows the rate of neurodegenerative decline but not retinopathy. Intravitreal rhTPP1 is known to slow retinal degeneration in a canine model of CLN2.

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Article Synopsis
  • Deafness impacts 5% of the global population, and current treatments for genetic hearing loss are largely lacking, particularly for disorders like Norrie disease, which is caused by mutations in the NDP gene and leads to dual sensory deprivation.
  • Researchers utilized a Norrie disease mouse model to test a gene therapy approach, delivering the human NDP cDNA through an adeno-associated viral vector (AAV)9 at various developmental stages.
  • Neonatal treatment showed promising results, preventing cochlear hair cell death and restoring both auditory function and retinal health, indicating potential for effective clinical therapy for Norrie disease-related hearing loss.
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Topic: Despite significant recent advances in artificial intelligence (AI) technology within several ophthalmic subspecialties, AI seems to be underutilized in the diagnosis and management of cataracts. In this article, we review AI technology that may soon become central to the cataract surgical pathway, from diagnosis to completion of surgery.

Clinical Relevance: This review describes recent advances in AI in the preoperative, intraoperative, and postoperative phase of cataract surgery, demonstrating its impact on the pathway and the surgical team.

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The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation. Pathogenic variants in NDP (Xp11.3) may result in either a severe retinal phenotype associated with hearing loss (Norrie Disease) or a moderate retinal phenotype (Familial Exudative Vitreoretinopathy, FEVR).

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Background: In diabetic retinopathy (DR) screening programmes feature-based grading guidelines are used by human graders. However, recent deep learning approaches have focused on end to end learning, based on labelled data at the whole image level. Most predictions from such software offer a direct grading output without information about the retinal features responsible for the grade.

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We report cases of acute angle closure in 2 young highly myopic siblings with Knobloch syndrome. To our knowledge, this is the first report of acute angle closure in Knobloch syndrome. Both patients were homozygous for a likely pathogenic variant in COL18A1.

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Purpose: The aim of this work is to demonstrate how a retinal image analysis system, DAPHNE, supports the optimization of diabetic retinopathy (DR) screening programs for grading color fundus photography.

Method: Retinal image sets, graded by trained and certified human graders, were acquired from Saudi Arabia, China, and Kenya. Each image was subsequently analyzed by the DAPHNE automated software.

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Retinitis pigmentosa (RP) relates to a heterogeneous group of rod-cone dystrophies of varying genetic aetiology. There is currently great interest in gene replacement therapy. Phenotyping is of particular importance because some RP genes are expressed ubiquitously and it is critically important to understand which retinal layer is primarily affected.

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Heterotopic pancreas, also known as ectopic pancreas, is pancreatic tissue located outside the pancreatic parenchyma without vascular or ductal communication with the gland. Ectopic pancreas is rarely symptomatic, typically detected incidentally at surgery or autopsy. Eighty-five to 90% are in the upper GI tract, especially the gastric antrum.

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Background: To characterize the health status of selected garment and textile factory workers in Bangladesh using a workplace mobile health clinic.

Methods: A retrospective review of de-identified worker health information was performed using 1906 medical records.

Results: The mean age of the workers was 27.

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Aims: The authors report on trends in the incidence of squamous cell carcinoma (SCC) affecting the eyelids in England over a 15-year period and identify associations between demographic factors and SCC risk.

Methods: The National Cancer Registration and Analysis Service identified all cases of eyelid SCC in England between 2000 and 2014. The crude and age-standardised rates of eyelid SCCs in England were calculated.

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Optical Coherence Tomography (OCT) is a safe and non-invasive method of high-resolution cross-sectional imaging of tissue microstructures using infrared radiation. This study investigates how the appearance of the punctum and proximal canaliculus differs pre- and post-operatively in patients undergoing punctoplasty surgery. Patients with symptomatic punctal stenosis warranting punctoplasty surgery were prospectively invited to enrol from a single centre.

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PurposeDry eye syndrome (DES) causes significant morbidity. Trials of blood-derived products in treatment of the condition show promising results. However, their production is expensive and time-consuming.

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Awareness of rare etiologies for implant failure is becoming increasingly important. In addition to the overall increase in joint arthroplasties, revision surgeries are projected to increase dramatically in the coming years, with volume increasing up to seven-fold between 2005 and 2030. The literature regarding the relationship between metal allergy and implant failure is controversial.

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Patients without diabetic retinopathy (DR) represent a large proportion of the caseload seen by the DR screening service so reliable recognition of the absence of DR in digital fundus images (DFIs) is a prime focus of automated DR screening research. We investigate the use of a novel automated DR detection algorithm to assess retinal DFIs for absence of DR. A retrospective, masked, and controlled image-based study was undertaken.

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This study aimed to address two queries: firstly, the relationship between two cataract surgical feedback tools for training, one human and one software based, and, secondly, evaluating microscope control during phacoemulsification using the software. Videos of surgeons with varying experience were enrolled and independently scored with the validated PhacoTrack motion capture software and the Objective Structured Assessment of Cataract Surgical Skill (OSACCS) human scoring tool. Microscope centration and path length travelled were also evaluated with the PhacoTrack software.

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Importance: Human factors training can enhance teamworking and reduce error. It is used regularly in certain medical disciplines, but its use has not been established for ophthalmology to our knowledge.

Objective: To explore the feasibility of providing immersive simulation human factors training for ophthalmic surgical teams.

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Most shunt obstructions happen at the inlet of the ventricular catheter. Three hundred six infusion studies from 2007 to 2011 were classified as having a typical pattern of either proximal occlusion or patency. We describe different patterns of shunt ventricular obstruction.

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Objectives: Suspected cerebrospinal fluid shunt (CSF) dysfunction in hydrocephalic patients poses a diagnostic uncertainty. The clinical picture can be non-specific and CT imaging alone is not always pathognomonic. Infusion tests are an increasingly used investigation for real-time hydrodynamic assessment of shunt patency.

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Ochronotic arthropathy occurs in patients with alkaptonuria, manifesting first in the intervertebral discs of the lumbar spine, with subsequent degeneration most often observed in the knee, hip, and shoulder joints. Efforts at treatment are targeted at minimizing the damaging effects of the underlying metabolic disorder on the articular cartilage. Vitamin E and N-acetyl cysteine are potential therapies because of their scavenging of free radicals and consequent limitation of oxidative damage to joint tissue.

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