The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.

Purpose: To describe the retinal phenotype associated with the p.Pro101Thr BEST1 variant.

Design: Retrospective, observational case series.

Photophysical Properties of Homo- and Hetero-Aggregate Assemblies Made of N-Annulated Perylene Derivatives.

We report the absorption spectra and photophysical properties of homo and hetero-aggregate assemblies of a strongly emissive N-annulated perylene dye (P) and of a dyad made of P and a methyl viologen derivative (P-MV), in ethanol-water solutions. In homo-aggregate assemblies of P, the π-π* fluorescence of the isolated chromophore is replaced by excimer emission at lower energy, with a lifetime of 900 ps, due to excimer formation from the initially prepared excitons. In homo-aggregate assemblies of P-MV, photoinduced charge separation, with formation of P -MV species, occurs in 3 ps with a charge recombination of 20 ps.

Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.

Background: Autosomal Recessive Bestrophinopathy (ARB) is an inherited retinal disease caused by biallelic mutations in the gene. Herein, we report the multimodal imaging findings of ARB presenting with cystoid maculopathy and investigate the short-term response to combined systemic and topical carbonic anhydrase inhibitors (CAIs).

Material And Methods: An observational, prospective, case series on two siblings affected by ARB is presented.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons of the dorsal root ganglia. The recurrent substitution in TRPM3: c.2509G>A, p.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Objective: Aiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed.

Methods: Only patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems.

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Magnesium (Mg) plays a crucial role in many biological processes especially in the brain, heart and skeletal muscle. Mg homeostasis is regulated by intestinal absorption and renal reabsorption, involving a combination of different epithelial transport pathways. Mutations in any of these transporters result in hypomagnesemia with variable clinical presentations.

Sympathetic Nerve Traffic Activation in Essential Hypertension and Its Correlates: Systematic Reviews and Meta-Analyses.

Muscle sympathetic nerve activity (MSNA) has shown that sympathetic activation may occur in essential hypertension (EHT). However, the small sample size of the studies, the heterogeneity of the patients examined, and the presence of confounders represented major weaknesses not allowing to draw definite conclusions. Among the 432 studies identified providing information in EHT on MSNA, 63 were eligible (1216 patients) and meta-analyzed grouping them on the basis of clinically relevant questions: (1) Is MSNA increased in hypertension of mild/moderate-to-severe degree? (2) Does sympathetic activation occur in borderline, white-coat, and masked EHT? (3) Is MSNA related to clinic and ambulatory blood pressure and target organ damage? (4) Are heart rate and venous plasma norepinephrine valuable surrogate markers of MSNA in clinical practice? The results show that MSNA was significantly greater (1.

Optimized Screening of Coronary Artery Disease With Invasive Coronary Angiography and Ad Hoc Percutaneous Coronary Intervention During Transcatheter Aortic Valve Replacement.

Background: We sought to describe an optimized approach to coronary artery disease (CAD) screening and management in patients undergoing transcatheter aortic valve replacement (TAVR).

Methods And Results: When invasive coronary angiography showed CAD, the treatment strategy and completeness of revascularization was determined based on coronary anatomy. TAVR was performed in the same setting if percutaneous coronary intervention (PCI) was uncomplicated; otherwise TAVR was postponed.

Intertrochanteric fractures: comparison between two different locking nails.

Purpose: The aim of this study was to compare two intramedullary devices used in the treatment of intertrochanteric fractures.

Method: During the period 2006-2007 46 TGN and 51 PFNA were used for the treatment of intertrochanteric fractures in our hospital. Clinical and radiological follow-up were available.

Isokinetic Testing of the Shoulder Abductors and Adductors: Windowed vs Nonwindowed Data Collection.

Presented at the Sports Physical Therapy Section Team Concept Meeting, December 1991, New Orleans, LA The manner of acquiring strength-testing data may influence the results of an investigation. The purpose of this study was to determine if a significant difference exists between windowed and unwindowed data collection during isokinetic testing of the shoulder abductors/adductors. Fifty healthy professional baseball pitchers participated in this study.

Suppression of demand pacemakers due to spurious signals generated by inactive endocardial electrodes.

We report a case of oversensing observed in a patient with a VVI pacemaker. This phenomenon was provoked by an inactive lead whose tip was in close apposition with the tip of the stimulating electrode. Potentials of large amplitude arose from the contact between these two catheters, causing pacer suppression.

[Automatic analysis of M.U.A.P.s (author's transl)].

The authors have studied the Motor Unit Action potentials derived from Extensor Digitorum Brevis and tibialis anterior muscles in normal subjects, using a new method of automatic analysis by means of a digital computer. In the light of the results they have obtained they discuss the validity and the sensitivity of the method as well as the opportuneness of the choice of the muscular region to examine when it comes to determining subclinical or "border-line" cases.