The structure–function correlation analysed by OCT and full field ERG in typical and pericentral subtypes of retinitis pigmentosa

AbstractTo investigate the structure–function correlation analysed by full-field electroretinography (ffERG) and optical coherence tomography (OCT) in typical and pericentral subtypes of retinitis pigmentosa (RP). A retrospective, cross-sectional, observational study of right eyes was conducted. The primary analysis used ffERG data to compare the RP subtypes. The subgroup analysis was used to correlate the structure, analysed by OCT, and function, determined by ffERG. Linear regressions explored the relationship between best-corrected visual acuity (BCVA) and multiple parameters. A total of 188 eyes were included. Amplitudes of responses of rod, rod-cone, cone, and 30 Hz flicker of typical type were lower than those of pericentral and other types. In the subgroup analysis, 41 and 21 eyes of the typical and pericentral types were studied, respectively. The correlation between the estimated preserved photoreceptor area and all ffERG amplitude parameters were significant in the typical type, but not in pericentral type. Old age, decreased intact ellipsoid zone length, typical type, and thin central retinal thickness were negatively correlated with BCVA. Typical type RP developed more extensive degeneration and poorer BCVA compared to others. Strong structure–function correlation was found in typical type while not in pericentral type. OCT may be a useful tool for monitoring RP status in typical type, providing useful parameters for the prediction of BCVA.

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Faculty Opinions recommendation of Structure-function correlation in airway smooth muscle adapted to different lengths.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.722354102.793514967 ◽

2016 ◽

Author(s):

James Martin

Keyword(s):

Smooth Muscle ◽

Structure Function ◽

Airway Smooth Muscle ◽

Function Correlation

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Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

International Journal of Molecular Sciences ◽

10.3390/ijms22052374 ◽

2021 ◽

Vol 22 (5) ◽

pp. 2374

Author(s):

Laura Kuehlewein ◽

Ditta Zobor ◽

Katarina Stingl ◽

Melanie Kempf ◽

Fadi Nasser ◽

...

Keyword(s):

Visual Acuity ◽

Genetic Testing ◽

Retinitis Pigmentosa ◽

Fundus Autofluorescence ◽

Retinal Disease ◽

New Drugs ◽

Autofluorescence Imaging ◽

Full Field ◽

Tertiary Referral Center ◽

The Right

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus threshold, spectral domain optical coherence tomography, and fundus autofluorescence imaging. The genetic testing comprised candidate gene sequencing, inherited retinal disease gene panel sequencing, whole-genome sequencing, and testing for familial variants by Sanger sequencing. Twenty-four patients with mutations in PDE6B from 21 families were included in the study (mean age at the first visit: 32.1 ± 13.5 years). The majority of variants were putative splicing defects (8/23) and missense (7/23) mutations. Seventy-nine percent (38/48) of eyes had no visual acuity impairment at the first visit. Visual acuity impairment was mild in 4% (2/48), moderate in 13% (6/48), and severe in 4% (2/48). BCVA was symmetrical in the right and left eyes. The kinetic VF measurements were highly symmetrical in the right and left eyes, as was the horizontal ellipsoid zone (EZ) width. Regarding the genetic findings, 43% of the PDE6B variants found in our patients were novel. Thus, this study contributed substantially to the PDE6B mutation spectrum. The visual acuity impairment was mild in 83% of eyes, providing a window of opportunity for investigational new drugs. The EZ width was reduced in all patients and was highly symmetric between the eyes, making it a promising outcome measure. We expect these findings to have implications on the design of future PDE6B-related retinitis pigmentosa (RP) clinical trials.

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Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score

Journal of Clinical Medicine ◽

10.3390/jcm10153275 ◽

2021 ◽

Vol 10 (15) ◽

pp. 3275

Author(s):

Chaitanya Gadepalli ◽

Karolina M. Stepien ◽

Reena Sharma ◽

Ana Jovanovic ◽

Govind Tol ◽

...

Keyword(s):

Airway Disease ◽

Lysosomal Storage ◽

Cross Sectional ◽

Airway Narrowing ◽

3 Dimensional ◽

Multiple Parameters ◽

Validated Questionnaire ◽

Dimensional Reconstruction ◽

Cross Sectional Imaging ◽

Airway Abnormalities

(1) Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the absence of enzymes required for degradation of glycosaminoglycans (GAGs). GAGs deposition in tissues leads to progressive airway narrowing and/or tortuosity. Increased longevity of patients has posed newer problems, especially the airway. This study aims to characterise various airway abnormalities in adult MPS from a regional centre and proposes a method to quantify the severity of the airway disease. (2) Methods: Retrospective analysis by case notes review, clinical examination, endoscopy, cross-sectional imaging, 3-dimensional reconstruction, and physiological investigations were used to assess the airway abnormalities. Quantitative assessment of the airway severity was performed a validated questionnaire of 15 parameters to derive Salford Mucopolysaccharidosis Airway Score (SMAS). (3) Results: Thirty-one adult MPS patients (21M/ 9F; median 26.7 years; range 19–42 years) were reviewed. There were 9 MPS I, 12 MPS II, 2 MPS III, 5 MPS IV, 2 MPS VI, and 1 MPS VII. Airway abnormalities in each MPS type are described. Patients scoring more than 35 on SMAS had some form of airway intervention. The area under curve of 0.9 was noted at a score of 25, so SMAS more than 25 may predict a difficult airway and potential to have complications. Pearson’s correlation between SMAS and height, weight, BMI were poor (p < 0.05). (4) Conclusions: Airway abnormalities in adult MPS are varied and complex. Assessment of the airway should be holistic and include multiple parameters. An objective multidimensional score such as SMAS may help to predict and manage difficult airways warranting further investigation and validation.

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Comparative Study of Chemosensory Dysfunction in COVID-19 in 2 Geographically Distinct Regions

Ear Nose & Throat Journal ◽

10.1177/01455613211000170 ◽

2021 ◽

pp. 014556132110001

Author(s):

Daniel J. Lee ◽

Daniella Daliyot ◽

Ri Wang ◽

Joel Lockwood ◽

Paul Das ◽

...

Keyword(s):

Comparative Study ◽

Symptom Onset ◽

Subgroup Analysis ◽

Primary Outcome ◽

Cross Sectional Study ◽

The Self ◽

Sectional Study ◽

Cross Sectional ◽

Specific Data ◽

Geographical Regions

Objective: To directly compare the prevalence of chemosensory dysfunction (smell and taste) in geographically distinct regions with the same questionnaires. Methods: A cross-sectional study was performed to evaluate the self-reported symptoms among adults (older than 18 years) who underwent COVID-19 testing at an ambulatory assessment center in Canada and at a hospital in Israel between March 16, 2020, and August 19, 2020. The primary outcome was the prevalence of self-reported chemosensory dysfunction (anosmia/hypomsia and dysgeusia/ageusia). Subgroup analysis was performed to evaluate the prevalence of chemosensory deficits among the outpatients. Results: We identified a total of 350 COVID-19–positive patients (138 Canadians and 212 Israelis). The overall prevalence of chemosensory dysfunction was 47.1%. There was a higher proportion of chemosensory deficits among Canadians compared to Israelis (66.7% vs 34.4%, P < .01). A subgroup analysis for outpatients (never hospitalized) still identified a higher prevalence of chemosensory dysfunction among Canadians compared to Israelis (68.2% vs 36.1%, P < 0.01). A majority of patients recovered their sense of smell after 4 weeks of symptom onset. Conclusion: Although the prevalence of chemosensory deficit in COVID-19 was found to be similar to previously published reports, the prevalence can vary significantly across different geographical regions. Therefore, it is important to obtain regionally specific data so that the symptom of anosmia/dysgeusia can be used as a guide for screening for the clinical diagnosis of COVID-19.

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Structure−Function Correlation of Chloroquine and Analogues as Transgene Expression Enhancers in Nonviral Gene Delivery

Journal of Medicinal Chemistry ◽

10.1021/jm060736s ◽

2006 ◽

Vol 49 (22) ◽

pp. 6522-6531 ◽

Cited By ~ 88

Author(s):

Jianjun Cheng ◽

Ryan Zeidan ◽

Swaroop Mishra ◽

Aijie Liu ◽

Suzie H. Pun ◽

...

Keyword(s):

Gene Delivery ◽

Structure Function ◽

Transgene Expression ◽

Nonviral Gene Delivery ◽

Function Correlation

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Macromolecular Prodrugs of Ribavirin: Structure–Function Correlation as Inhibitors of Influenza Infectivity

Molecular Pharmaceutics ◽

10.1021/acs.molpharmaceut.6b00826 ◽

2016 ◽

Vol 14 (1) ◽

pp. 234-241 ◽

Cited By ~ 9

Author(s):

Camilla Frich Riber ◽

Tracey M. Hinton ◽

Paulina Gajda ◽

Kaja Zuwala ◽

Martin Tolstrup ◽

...

Keyword(s):

Structure Function ◽

Function Correlation ◽

Macromolecular Prodrugs

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USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies

Diagnostics ◽

10.3390/diagnostics11020213 ◽

2021 ◽

Vol 11 (2) ◽

pp. 213

Author(s):

Benedetto Falsini ◽

Giorgio Placidi ◽

Elisa De Siena ◽

Maria Cristina Savastano ◽

Angelo Maria Minnella ◽

...

Keyword(s):

Retinitis Pigmentosa ◽

Pigment Epithelium ◽

Retinal Pigment ◽

Usher Syndrome ◽

Collaborative Study ◽

Staging System ◽

International Standards ◽

Full Field ◽

Functional Studies ◽

Cumulative Score

Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease.

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Abstract P284: The Association Of Oral Hypofunction And Increased Arterial Stiffness

Hypertension ◽

10.1161/hyp.78.suppl_1.p284 ◽

2021 ◽

Vol 78 (Suppl_1) ◽

Author(s):

Chisa Matsumoto ◽

Hirofumi Tomiyama ◽

Mari Matsuura ◽

Takayuki Nakai ◽

Daichi Chikazu ◽

...

Keyword(s):

Risk Factors ◽

Arterial Stiffness ◽

Subgroup Analysis ◽

Linear Regression Analysis ◽

Tongue Pressure ◽

Multivariate Linear Regression Analysis ◽

Cvd Risk Factors ◽

Cvd Risk ◽

Swallowing Function ◽

Cross Sectional

Background: Frailty is associated with higher risk of cardiovascular disease (CVD) and mortality. Recently, oral hypofunction, a disease in which the oral function is complexly reduced not only by ageing but also by a variety of factors, is regarded as a major risk factor for frailty, as it develops malnutrition and sarcopenia. However, no studies have evaluated the association of oral hypofunction and arterial stiffness, a marker for CVD. Hypothesis: We hypothesized that subjects with oral hypofunction have increased arterial stiffness compared to those without oral hypofunction. Methods: Japanese subjects above 50 years old who underwent annual health checkup were enrolled in this cross-sectional study. Subjects with history of CVD and dementia were excluded. Arterial stiffness was evaluated by brachial-ancle pulse wave velocity (baPWV). Oral hypofunction was evaluated based on the guidance by the Japanese Association for Dental Science. Seven oral factors, oral hygiene, oral moisture, occlusal force, tongue-lip motor function, tongue pressure, masticatory function, and swallowing function were assessed. Oral hypofunction was diagnosed if more than 3 factors showed deterioration. The association of oral hypofunction and baPWV was evaluated by multivariate linear regression analysis adjusted for conventional CVD risk factors. We also performed subgroup analysis stratified by age. (<60, ≧60 years). Results: Among 148 subjects (mean age: 59±7 years), 34 subjects (23%) had oral hypofunction. BaPWV in subjects with oral hypofunction was significantly higher than subjects without oral hypofunction (mean baPWV: 1539±312 v.s. 1416±260cm/sec, p=0.02). However, after adjustment for CVD risk factors, oral hypofunction did not significantly associate with baPWV (β=46±49, p=0.35). On the other hand, in subgroup analysis, oral hypofunction was significantly associated with increased baPWV among subjects in subjects younger than 60 years old even after adjustment of CVD risk factors (β=135±67, p=0.046), but this association was not observed in subjects over 60s. Conclusion: Oral hypofunction was associated with increased arterial stiffness, especially in subjects younger than 60s. Further research on oral hypofunction and CVD is warranted.

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