Familial Nanophthalmos Presenting with Spontaneous Uveal Effusion Syndrome

ABSTRACT

Purpose: To report two unique cases of spontaneous uveal effusion syndrome (UES) from the same family.

Methods: The patients included father (54 years old) and a daughter (23 years old). The father presented 7 years ago with bilateral exudative retinal detachment, nanophthalmic eyes (axial length 16.11 mm and 16.43 mm in right and left eyes, respectively) with hypermetropia, and a thickened sclera on MRI. The daughter presented with left eye peripheral exudative annular retinal detachment with bilateral nanophthalmos (axial length 20.7 mm and 20.33 mm, in right and left eyes, respectively), with MRI showing ciliochoroidal detachment, suprachoroidal effusion and mild thickening of the sclera in left eye.

Results: The father underwent subscleral sclerectomy in the left eye that led to resolution of submacular fluid. Scleral biopsy confirmed the deposition of glycosaminoglycans on Alcian blue stain. The daughter was kept under observation, because of absence of any macular subretinal fluid, and counselled about the familial nature of the disease and possible need for future intervention.

Conclusion: This is the first report of familial nanophthalmos presenting with spontaneous UES.     

Primary hyperparathyroidism presenting as severe hypercalcemia with acute pancreatitis in pregnancy

Abstract

Primary hyperparathyroidism presenting first time with severe hypercalcemia is rare in pregnancy. We report a case of primary hyperparathyroidism due to a cystic parathyroid adenoma presenting as severe hypercalcemia with acute pancreatitis in second trimester of pregnancy. Acute pancreatitis was managed by conservative treatment. Hypercalcemia failed to respond to medical management and ultimately responded to ultrasound-guided ethanol ablation of parathyroid adenoma. The delivery was uneventful and patient continues to remain normocalcemic during follow up. As such, ethanol ablation of parathyroid adenoma may be considered during pregnancy in case of failure of response to medical management and when surgical removal of parathyroid adenoma is not safe.     

Role of Serum High-Sensitivity C-Reactive Protein as a Predictor of Therapeutic Response to Tadalafil in Patients With Erectile Dysfunction: A Prospective Observational Study

IntroductionHigh-sensitivity C-reactive protein (hs-CRP), a marker of inflammation, is known to be elevated in patients with erectile dysfunction (ED). However, its role in predicting therapeutic response to phosphodiesterase-5 inhibitors is incompletely understood.AimThe aim of this study was to understand the relationship among hs-CRP, mechanism of ED, and therapeutic response of ED to tadalafil, a phosphodiesterase-5 inhibitor.MethodsA total of 282 men (mean age 36.6 ± 12.0 years) with ED were included. All subjects underwent detailed evaluation, including estimation of a 6-item abbreviated version of the International Index of Erectile Function (IIEF-6) score, penile Doppler studies, and measurement of hs-CRP. IIEF-6 scoring and hs-CRP measurement were repeated after 6 weeks of tadalafil therapy (10 mg/day). The patients were categorized into vasculogenic and nonvasculogenic ED groups based on penile Doppler findings.Main Outcome MeasureThe main outcome measure was the therapeutic response to tadalafil, in relation to the mechanism of ED and hs-CRP levels.ResultsVasculogenic ED was much less common (23.8% of the subjects) than non-vasculogenic ED. Subjects with vasculogenic ED were older, had higher prevalence of cardiovascular risk factors, had more severe (mean IIEF-6 score 9.2 ± 4.6 vs 14.8 ± 4.7; P < .001) and longer duration ED, and responded less favorably to therapy (response rate 10.4% vs 75.0%; P < .001). Those showing improvement with tadalafil had lower hs-CRP at baseline (median 1.5 mg/L [interquartile range 0.9?2.3] vs 2.0 mg/L [interquartile range 1.1?3.1; P = .034]) and had proportionately greater reduction in its level. However, on multivariate analysis, only shorter duration of ED (P = .008), non-vasculogenic origin (P = .025), and higher IIEF-6 score at baseline (P = .013) were independent predictors of response to treatment.Clinical ImplicationsSerum hs-CRP is elevated in patients who are less likely to respond to vasodilator therapy but does not have an independent predictive value for this purpose.Strengths & LimitationsThis is the largest study to evaluate the relationship among the mechanism of ED, serum hs-CRP level, and therapeutic response of ED to tadalafil. All patients underwent a penile Doppler study to characterize the type of ED. The limitations were nonrandomized nature of the study and nearly 22% dropout rate.ConclusionSerum hs-CRP level is higher in vasculogenic ED compared with non-vasculogenic ED, and is associated with poorer response to tadalafil therapy. However, this association is not independent of underlying risk factors and mechanism of ED.Jamaluddin, Bansal M, Srivastava GK, et al. Role of Serum High-Sensitivity C-Reactive Protein as a Predictor of Therapeutic Response to Tadalafil in Patients With Erectile Dysfunction: A Prospective Observational Study. J Sex Med 2019;16:1912–1921.     

Diagnostic performance of cardiac computed tomography versus transesophageal echocardiography in infective endocarditis: A contemporary comparative meta-analysis

ObjectiveTo compare the diagnostic accuracy of transesophageal echocardiography (TEE) and cardiac computed tomography (CCT) in diagnosing infective endocarditis (IE).BackgroundTEE is a mainstay imaging modality for IE, while the use of CCT is becoming increasingly prevalent. Data directly comparing the diagnostic performance of these two imaging modalities for IE are limited.MethodsWe conducted a systematic review and meta-analysis of published literature in Embase, PubMed and Cochrane databases through October 1, 2020 for studies comparing diagnostic performance of CCT and TEE for the diagnosis of IE in the same patient populations. A meta-analysis of diagnostic accuracy was performed using the bivariate model based on studies that used surgical pathology as a reference standard for defining endocarditis. From a total of 10 studies included in the meta-analysis, a total of 872 patients were evaluated.ResultsThe pooled sensitivities and specificities of TEE for detecting vegetations were 96% and 83% respectively, whereas for CCT, they were 85% and 84%, respectively. In the prosthetic valve sub-group, the pooled sensitivities and specificities of TEE for detecting vegetations were 89% and 74% respectively, whereas for CCT, they were 78% and 94%, with CCT being more specific than TEE (p < 0.05). The pooled sensitivities and specificities of TEE for detecting periannular complications were 70% and 96% respectively, whereas for CCT, they were 88% and 93%, respectively. CCT showed a trend (p = 0.06) towards higher sensitivity than TEE for detection of periannular complications. The pooled sensitivities and specificities of TEE for detecting leaflet perforation were 79% and 93% respectively, whereas for CCT, they were 48% and 93% respectively, with TEE being more sensitive (p < 0.05). The two modalities also showed comparable diagnostic performance for detecting fistulae, paravalvular leaks and prosthetic valve dehiscence.ConclusionIn a contemporary comparative meta-analysis, TEE and CCT demonstrated both good diagnostic accuracy for detecting valvular involvement and complications of IE. TEE performed better for detecting leaflet defects, whereas CCT performed better in cases of prosthetic valve involvement, and showed a trend towards improved detection of periannular complications. Appropriate, complementary use of both TEE and CCT in a multimodality imaging approach in clinical practice may achieve the highest diagnostic performance.