Photometry and astrometry with JWST -- III. A NIRCam-Gaia DR3 analysis of the open cluster NGC 2506

In the third paper of this series aimed at developing the tools for analysing resolved stellar populations using the cameras on board of the James Webb Space Telescope (JWST), we present a detailed multi-band study of the 2 Gyr Galactic open cluster NGC 2506. We employ public calibration data-sets collected in multiple filters to: (i) derive improved effective Point Spread Functions (ePSFs) for ten NIRCam filters; (ii) extract high-precision photometry and astrometry for stars in the cluster, approaching the main-sequence (MS) lower mass of ~0.1 Msun; and (iii) take advantage of the synergy between JWST and Gaia DR3 to perform a comprehensive analysis of the cluster's global and local properties. We derived a MS binary fraction of ~57.5 %, extending the Gaia limit (~0.8 Msun) to lower masses (~0.4 Msun) with JWST. We conducted a study on the mass functions (MFs) of NGC 2506, mapping the mass segregation with Gaia data, and extending MFs to lower masses with the JWST field. We also combined information on the derived MFs to infer an estimate of the cluster present-day total mass. Lastly, we investigated the presence of white dwarfs (WDs) and identified a strong candidate. However, to firmly establish its cluster membership, as well as that of four other WD candidates and of the majority of faint low-mass MS stars, further JWST equally deep observations will be required. We make publicly available catalogues, atlases, and the improved ePSFs.Comment: 20 pages, 17 figures (5 in low resolution), 4 tables. Accepted for publication in MNRAS on August 5, 2023. PSF models, catalogs and stacked images are publicly available at https://web.oapd.inaf.it/bedin/files/PAPERs_eMATERIALs/JWST/Paper_03

Manejo de irrigação para cafeeiros propagador por embriogênese somática

A irrigação do cafeeiro tem se tornado prática cada vez mais frequente e necessária, uma vez que a cafeicultura tem migrado para regiões antes consideradas não aptas ao cultivo do café. Mesmo em regiões consideradas aptas quanto a deficiência hídrica como a região do sul de Minas, o uso da irrigação vem se tornando prática crescente. Porém, ainda são escassos os estudos sobre a adaptabilidade de cafeeiros provenientes de embriogênese somática a irrigação em condições de campo. Dessa maneira o objetivo desse trabalho foi determinar os níveis adequados de reposição de água de irrigação para cafeeiros oriundos de mudas propagadas por embriogênese somática. O experimento foi instalado no setor de cafeicultura da Universidade Federal de Lavras, onde foram plantadas mudas de Siriema, clone 03 resistente a ferrugem e ao bicho mineiro. O experimento foi instalado em blocos casualizados, com quatro repetições e seis tratamentos. Os tratamentos foram compostos de seis lâminas de irrigação baseadas em frações do Kc, constituídas de 0,4 (T2); 0,7 (T3); 1,0 (T4); 1,3 (T5); 1,6 (T6) e não irrigado (T1). Sendo aplicadas 75,22; 131,63; 188,05; 244,46 e 300,88 mm respectivamente aos tratamentos T2, T3, T4, T5 e T6. Foram avaliados durante o período de um ano após a implantação da lavoura a altura e o diâmetro de copa dos cafeeiros, sendo a parcela constituída por oito plantas e avaliada as seis plantas centrais. Os resultados mostraram que as parcelas irrigadas apresentaram aumento do Índice de área foliar (IAF) até uma lâmina máxima de 225,25 mm, correspondente a fração de 1,2 do Kc. Este crescimento correspondeu a 1,46 m².m-2 do IAF, cerca de 43,13% a mais que as parcelas não irrigadas

The need for biochemical testing in beta‐enolase deficiency in the genomic era

Glycogen storage disease type XIII (GSDXIII) is a very rare inherited metabolic myopathy characterized by autosomal‐recessive mutations in the ENO3 gene resulting in muscle β‐enolase deficiency, an enzymatic defect of the distal part of glycolysis. Enzyme kinetic studies of two patients presenting with exertion intolerance and recurrent rhabdomyolysis are reported. Next generation sequencing confirmed patient 1 was homozygous for p.E187K in ENO3, while patient 2 was homozygous for p.C357Y. ENO3 variants pathogenicity was confirmed by functional studies in skeletal muscle. p.E187K caused extremely low total enolase activity. p.C357Y was associated with a higher level of residual activity but kinetic studies showed a lower maximum work rate (Vmax). This study illustrates that GSDXIII may be caused by either null mutations leading to β‐enolase deficiency or by mutations that alter the enzyme's kinetic profile. This study highlights the importance of carrying out functional studies as part of the diagnostic process following the identification of variants with next generation sequencing

Astro-photometric study of M37 with Gaia and wide-field ugi-imaging

We present an astrometric and photometric wide-field study of the Galactic open star cluster M37 (NGC 2099). The studied field was observed with ground-based images covering a region of about four square degrees in the Sloan-like filters ugi. We exploited the Gaia catalogue to calibrate the geometric distortion of the large field mosaics, developing software routines that can be also applied to other wide-field instruments. The data are used to identify the hottest white dwarf (WD) member candidates of M37. Thanks to the Gaia EDR3 exquisite astrometry we identified seven such WD candidates, one of which, besides being a high-probability astrometric member, is the putative central star of a planetary nebula. To our knowledge, this is a unique object in an open cluster, and we have obtained follow-up low-resolution spectra that are used for a qualitative characterisation of this young WD. Finally, we publicly release a three-colour atlas and a catalogue of the sources in the field of view, which represents a complement of existing material.Comment: 13 pages, 4 table, 13 figures. Accepted for publication in MNRAS on 2022, July 6, manuscript ID. MN-22-2264-M

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

BACKGROUND: International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. Our objective was to create and implement a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) and to disseminate the knowledge of these disorders. RESULTS: Teams from nine different countries (United Kingdom, Spain, Italy, France, Germany, Denmark, Greece, Turkey and USA) created a consortium that developed the first European registry dedicated to rare muscle glycogenoses. A work plan was implemented to design the database and platform that constitute the registry, by choosing clinical, genetics and molecular variables of interest, based on experience gained from previous national registries for similar metabolic disorders. Among dissemination activities, several teaching events were organized in different countries, especially those where the consortium considered the awareness of these diseases needs to be promoted among health professionals and patients. CONCLUSION: EUROMAC represents a step forward in the knowledge of those disorders to which it is dedicated, and will have relevant clinical outcomes at the diagnostic, epidemiological, clinical and research level

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

INTRODUCTION: Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of risdiplam in previously treated pediatric and adult patients with types 1-3 SMA. Here, an analysis was performed after all patients had received at least 1 year of treatment with risdiplam. METHODS: Patients with a confirmed diagnosis of 5q-autosomal recessive SMA between the ages of 6 months and 60 years were eligible for enrollment. Patients were previously enrolled in the MOONFISH study (NCT02240355) with splicing modifier RG7800 or treated with olesoxime, nusinersen, or onasemnogene abeparvovec. The primary objectives of the JEWELFISH study were to evaluate the safety and tolerability of risdiplam and investigate the PK after 2 years of treatment. RESULTS: A total of 174 patients enrolled: MOONFISH study (n = 13), olesoxime (n = 71 patients), nusinersen (n = 76), onasemnogene abeparvovec (n = 14). Most patients (78%) had three SMN2 copies. The median age and weight of patients at enrollment was 14.0 years (1-60 years) and 39.1 kg (9.2-108.9 kg), respectively. About 63% of patients aged 2-60 years had a baseline total score of less than 10 on the Hammersmith Functional Motor Scale-Expanded and 83% had scoliosis. The most common adverse event (AE) was upper respiratory tract infection and pyrexia (30 patients each; 17%). Pneumonia (four patients; 2%) was the most frequently reported serious AE (SAE). The rates of AEs and SAEs per 100 patient-years were lower in the second 6-month period compared with the first. An increase in SMN protein was observed in blood after risdiplam treatment and was comparable across all ages and body weight quartiles. CONCLUSIONS: The safety and PD of risdiplam in patients who were previously treated were consistent with those of treatment-naïve patients

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Introduction: Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of risdiplam in previously treated pediatric and adult patients with types 1-3 SMA. Here, an analysis was performed after all patients had received at least 1 year of treatment with risdiplam. Methods: Patients with a confirmed diagnosis of 5q-autosomal recessive SMA between the ages of 6 months and 60 years were eligible for enrollment. Patients were previously enrolled in the MOONFISH study (NCT02240355) with splicing modifier RG7800 or treated with olesoxime, nusinersen, or onasemnogene abeparvovec. The primary objectives of the JEWELFISH study were to evaluate the safety and tolerability of risdiplam and investigate the PK after 2 years of treatment. Results: A total of 174 patients enrolled: MOONFISH study (n = 13), olesoxime (n = 71 patients), nusinersen (n = 76), onasemnogene abeparvovec (n = 14). Most patients (78%) had three SMN2 copies. The median age and weight of patients at enrollment was 14.0 years (1-60 years) and 39.1 kg (9.2-108.9 kg), respectively. About 63% of patients aged 2-60 years had a baseline total score of less than 10 on the Hammersmith Functional Motor Scale-Expanded and 83% had scoliosis. The most common adverse event (AE) was upper respiratory tract infection and pyrexia (30 patients each; 17%). Pneumonia (four patients; 2%) was the most frequently reported serious AE (SAE). The rates of AEs and SAEs per 100 patient-years were lower in the second 6-month period compared with the first. An increase in SMN protein was observed in blood after risdiplam treatment and was comparable across all ages and body weight quartiles. Conclusions: The safety and PD of risdiplam in patients who were previously treated were consistent with those of treatment-naïve patients

MRP3 is a sex determining gene in the diatom Pseudo-nitzschia multistriata

A broad diversity of sex-determining systems has evolved in eukaryotes. However, information on the mechanisms of sex determination for unicellular microalgae is limited, including for diatoms, key-players of ocean food webs. Here we report the identification of a mating type (MT) determining gene for the diatom Pseudo-nitzschia multistriata. By comparing the expression profile of the two MTs, we find five MT-biased genes, of which one, MRP3, is expressed exclusively in MT+ strains in a monoallelic manner. A short tandem repeat of specific length in the region upstream of MRP3 is consistently present in MT+ and absent in MT- strains. MRP3 overexpression in an MT- strain induces sex reversal: the transgenic MT- can mate with another MT- strain and displays altered regulation of the other MT-biased genes, indicating that they lie downstream. Our data show that a relatively simple genetic program is involved in defining the MT in P. multistriata