Characterising brown dwarf companions with IRDIS long-slit spectroscopy: HD 1160 B and HD 19467 B

The determination of the fundamental properties (mass, separation, age, gravity and atmospheric properties) of brown dwarf companions allows us to infer crucial informations on their formation and evolution mechanisms. Spectroscopy of substellar companions is available to date only for a limited number of objects (and mostly at very low resolution, R<50) because of technical limitations, i.e., contrast and angular resolution. We present medium resolution (R=350), coronagraphic long-slit spectroscopic observations with SPHERE of two substellar companions, HD 1160 B and HD 19467 B. We found that HD 1160 B has a peculiar spectrum that cannot be fitted by spectra in current spectral libraries. A good fit is possible only considering separately the Y+J and the H spectral band. The spectral type is between M5 and M7. We also estimated a T_eff of 2800-2900 K and a log(g) of 3.5-4.0 dex. The low surface gravity seems to favour young age (10-20 Myr) and low mass (~20 M Jup ) for this object. HD 19467 B is instead a fully evolved object with a T_eff of ~1000 K and log g of ~5.0 dex. Its spectral type is T6+/-1.Comment: 14 pages, 14 Figures. Accepted for publication on MNRA

Mapping of Friedreich's ataxia locus by identification of recombination events in patients homozygous by descent.

The Friedreich's ataxia locus (FRDA) maps on chromosome 9q13. Genetic data, obtained from a small number of recombination events, indicated that the FRDA locus might be located centromeric to the D9S15/D9S5 linkage group, the most probable order being cen-FRDA-D9S5-D9S111-D9S15-D9S110-qter. Recently, new centromeric markers have been reported. Analysis of these markers allowed us to localize the recombination breakpoint in some of the recombinant families. However, only one proximal recombination has been found with these markers. To increase the genetic information from FRDA families, we have analyzed the centromeric markers FR1, FR2, FR7, FR8, and FR5 in patients homozygous by descent. These were ascertained because parents were consanguineous or because they were homozygous for the entire haplotype D9S15 or D9S111-D9S5-D9S411E-D9S202. Haplotype divergence for, at least, two contiguous markers was observed in two patients homozygous for the core D9S111-FR2 haplotype and in one third-degree consanguineous family homozygous for haplotype D9S411E-FR5. Interpretation of divergence as the result of ancient meiotic crossovers allowed the definition of three new recombination events which place the FRDA locus within the interval defined by markers D9S411E and FR8. A consanguineous family with first-cousin parents showed homozygosity only at D9S202 and FR2. Further investigations are needed to discern whether two different mutations are segregating in the family or whether two recombinations, one distal and one proximal, have taken place.Journal ArticleResearch Support, Non-U.S. Gov'tinfo:eu-repo/semantics/publishe

Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q.

Absence of lower limb tendon reflexes has been considered an essential diagnostic criterion for Friedreich's ataxia (FA). However, preservation of knee and ankle jerks has been reported in a few patients. Linkage analysis to FA locus (FRDA) on chromosome 9q13-21.1 was performed in 11 patients from 6 families with FA phenotype, including cardiomyopathy, but retained reflexes (FARR). A maximal lod score of 3.38 at recombination fraction theta equal to 0.00 was obtained demonstrating that FARR maps to the FRDA locus. These results suggest that FARR is a variant phenotype of FA.Journal ArticleResearch Support, Non-U.S. Gov'tFLWNAinfo:eu-repo/semantics/publishe

Management of Female and Functional Urology Patients During the COVID Pandemic

CONTEXT: Coronavirus disease 19 (COVID-19) has changed standard urology practice around the world. The situation is affecting not only uro-oncological patients but also patients with benign and disabling conditions who are suffering delays in medical attention that impact their quality of life. OBJECTIVE: To propose, based on expert advice and current evidence where available, a strategy to reorganize female and functional urological (FFU) activity (diagnosis and treatment). EVIDENCE ACQUISITION: The present document is based on a narrative review of the limited data available in the urological literature on SARS-Cov-2 and the experience of FFU experts from several countries around the world. EVIDENCE SYNTHESIS: In all the treatment schemes proposed in the literature on the COVID-19 pandemic, FFU surgery is not adequately covered and usually grouped into the category that is not urgent or can be delayed, but in a sustained pandemic scenario there are cases that cannot be delayed that should be considered for surgery as a priority. The aim of this document is to provide a detailed management plan for noninvasive and invasive FFU consultations, investigations, and operations. A classification of FFU surgical activity by indication and urgency is proposed, as well as recommendations adopted from the literature for good surgical practice and by surgical approach in FFU in the COVID-19 era. CONCLUSIONS: Functional, benign, and pelvic floor conditions have often been considered suitable for delay in challenging times. The long-term implications of this reduction in functional urology clinical activity are currently unknown. This document will help functional urology departments to reorganize their activity to best serve their patients. PATIENT SUMMARY: Many patients will suffer delays in urology treatment because of COVID-19, with consequent impairment of their physical and psychological health and deterioration of their quality of life. Efforts should be made to minimize the burden for this patient group, without endangering patients and health care workers.status: publishe