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View article: (318) Management of Inguinal Hernias in Patients With Inflatable Penile Prosthesis: A Case Series and Surgical Considerations
(318) Management of Inguinal Hernias in Patients With Inflatable Penile Prosthesis: A Case Series and Surgical Considerations Open
Introduction Inflatable penile prostheses (IPP) are a well-established treatment for erectile dysfunction, especially in patients unresponsive to other therapies. Advances in surgical technique and implant design have improved outcomes and…
View article: (346) Assessment of the Functional and Satisfaction Outcomes After Inflatable Penile Prosthesis (IPP) Surgery Using a Validated Instrument
(346) Assessment of the Functional and Satisfaction Outcomes After Inflatable Penile Prosthesis (IPP) Surgery Using a Validated Instrument Open
Introduction Surgeon reported outcomes after IPP suggest near uniform satisfaction. The Satisfaction Survey for Inflatable Penile Implant (SSIPI) is the only validated English language tool designed to assess outcomes after IPP across mult…
View article: (175) An Analysis of the Safety of Penile Implant Surgery in Octogenarians
(175) An Analysis of the Safety of Penile Implant Surgery in Octogenarians Open
Introduction There is a correlation between age and severity of ED and therefore failure to respond to erectogenic pharmacotherapy. In contemporary society with increasing life expectancy, sexual health practitioners are increasingly encou…
View article: Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK
Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK Open
Purpose: To investigate genotype–phenotype correlations in PRPH2-retinopathies in a cohort of 36 patients from the Oxford Eye Hospital and report on novel pathogenic variants. Methods: Clinical data, including best corrected visual acuitie…
View article: Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations
Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations Open
Purpose To quantify spectral-domain optical coherence tomography (SD-OCT) images cross-sectionally and longitudinally in a large cohort of molecularly characterized patients with inherited retinal disease (IRDs) from the UK. Design Retrosp…
View article: Analysis of Oligodendrocyte Lineage Cell Progression with Cre-Mediated RiboTag Reporter Lines
Analysis of Oligodendrocyte Lineage Cell Progression with Cre-Mediated RiboTag Reporter Lines Open
Cre-reporter strategies in transgenic mice are widely used to assess the specificity of gene promoter activities, and for fate-mapping studies during development and under injury conditions. The ribosome tagging strategy, RiboTag, is a tra…
View article: Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI Open
Background Inherited retinal diseases (IRDs) are the leading cause of blindness in young people in the UK. Despite significant improvements in genomics medicine, the diagnosis of these conditions remains challenging, and around 40% do not …
View article: MANAGEMENT OF INGUINAL HERNIAS WITH OR WITHOUT HERNATION OF RESERVOIR IN PATIENTS WITH INFLATABLE PENILE PROSTHESIS: A CASE SERIES AND SURGICAL CONSIDERATIONS
MANAGEMENT OF INGUINAL HERNIAS WITH OR WITHOUT HERNATION OF RESERVOIR IN PATIENTS WITH INFLATABLE PENILE PROSTHESIS: A CASE SERIES AND SURGICAL CONSIDERATIONS Open
Objectives Inflatable penile prosthesis (IPP) using a 3-piece prosthesis is the most common surgical option for refractory erectile dysfunction. While inguinal hernias are common among men, there is a notable lack of literature addressing …
View article: Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom Open
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
View article: Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease
Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease Open
Image based cell-specific biomarkers will play an important role in monitoring treatment outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on the exact mechanism of retinal degeneration. Thi…
View article: Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom Open
Purpose To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients. Design Retrospective study of imaging data (55-degree blue-FAF …
View article: Longer-Term Clinical Outcomes From the THINKER and EXPANDER Trials of Transplantation of HCV-RNA+ Donor Kidneys Into Hepatitis C Virus-Negative Recipients
Longer-Term Clinical Outcomes From the THINKER and EXPANDER Trials of Transplantation of HCV-RNA+ Donor Kidneys Into Hepatitis C Virus-Negative Recipients Open
Long waiting times for kidney transplantation and the major health burdens of dialysis have generated interest in transplanting kidneys from donors with blood-borne viral infections. Until 2015, most kidneys from deceased donors with hepat…
View article: Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) Open
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in…
View article: Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning
Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning Open
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing …
View article: Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes Open
Background: This study aimed to compare phenotype–genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. Methods: Case not…
View article: An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story Open
Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin …
View article: The role of multimodal imaging and vision function testing in <i>ABCA4</i>-related retinopathies and their relevance to future therapeutic interventions
The role of multimodal imaging and vision function testing in <i>ABCA4</i>-related retinopathies and their relevance to future therapeutic interventions Open
The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventio…
View article: Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL Open
Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal …
View article: Rapid, Fatal Acute Right Ventricular Failure After Locoregional Cytokine Therapy for Uveal Melanoma Liver Metastases
Rapid, Fatal Acute Right Ventricular Failure After Locoregional Cytokine Therapy for Uveal Melanoma Liver Metastases Open
Locoregional cytokine treatment, or immunoembolization, is an experimental targeted therapy for uveal melanoma metastatic to the liver. Unlike systemic cytokine treatments that have been associated with substantial toxicity, this method of…