Cell- or network-driven oscillators underlie motor rhythmicity. The identity of C. elegans oscillators remains unknown. Through cell ablation, electrophysiology, and calcium imaging, we show: (1) forward and backward locomotion is driven by different oscillators; (2) the cholinergic and excitatory A-class motor neurons exhibit intrinsic and oscillatory activity that is sufficient to drive backw...

AIMS To characterise the disease in patients with mutations in RPE65. METHODS Individuals from two families were studied clinically. RESULTS 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygot...

The N-methyl-D-aspartate (NMDA) subtype of glutamate receptor is important for synaptic plasticity and nervous system development and function. We have used genetic and electrophysiological methods to demonstrate that NMR-1, a Caenorhabditis elegans NMDA-type ionotropic glutamate receptor subunit, plays a role in the control of movement and foraging behavior. nmr-1 mutants show a lower probabil...

ABSPRACT. A r e l i a b l e assessment of r i s k s and b e n e f i t s associated with exposure t o ultrasound is e s s e n t i a l because of the rapid development and increas ing u t i l i z a t i o n of ultrasound i n t h e hea l ing a r t s and i n i n d u s t r i a l and consmer appl ica t ions . has been d i rec ted t o the development of information on the b io logica l implicat ions of...

INTRODUCTION Use of deep sequencing is becoming a critical tool in clinical virology, with an important impact in the HIV field for routine diagnostic purposes. Here, we present the comparison of deep and Sanger sequencing in newly diagnosed HIV patients, and the use of DeepChek v1.3 & VisibleChek for their interpretation and integration with virological and clinical data. PATIENTS AND METHOD...

We recently reported 100 patients with a chronic eyelid dermatitis that did not resolve until all topical and systemic corticosteroids had been discontinued. All of these patients had been treated with long-term topical corticosteroids, usually with escalating dosage and frequency of application. In the majority of patients, the initial symptom of pruritus commonly evolved into a characteristic...

efficacy. These lesions are rarely selflimiting, and recurrences are common. We describe a 25-year-old woman with no relevant history who consulted for asymptomatic, flesh-colored papules of 1-2 mm, distributed on the anterior area of the neck and neckline (Figure 1). The symptoms started 10 years earlier on the lower eyelids, gradually spreading to the abdomen, neck, and neckline, with outbrea...

Systemic sclerosis (SSc) is characterized by vascular abnormalities, fi brosis, infl ammatory changes, and late stage tissue atrophy of the skin and several internal organs. In scleroderma-like disorders the distribution/characteristics of skin involvement is different. The skin involvement of the acral regions including digits is usually missing. Lack of Raynaud’s phenomenon, and scleroderma-s...

Pietro Enea Lazzerini, MD, Antonio Brucato, MD, Pier Leopoldo Capecchi, MD, Lucia Baldi, MD, Maria Romana Bacarelli, Tech, Claudia Nucci, MD, Valentina Moscadelli, MD, Gabriella Morozzi, BiolD, Mohamed Boutjdir, PhD, Franco Laghi-Pasini, MD From the Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy, Department of Internal Medicine, “Papa Giovanni XXIII...

AIMS To determine the molecular basis and describe the phenotype of an atypical retinal dystrophy in a family presenting with bilateral, progressive central visual loss. METHODS Family members were examined. Investigations included Goldman perimetry, electrophysiology, and autofluorescence imaging. Candidate gene screening was performed using SSCP and sequence analysis. The proband's lymphobl...