Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy.     

Low‐Temperature Polymerization of Olefins in the Presence of Titanium Monoamidinate/MAO Catalyst

This paper reports the predominantly syndiotactic‐specific polymerization of propylene in the presence of titanium monoamidinate/methylaluminoxane (MAO) catalysts. The same catalysts, depending on the reaction conditions, also promote either predominantly 1,4‐cis or 1,4‐trans polymerization of 1,3‐butadiene and polymerization of styrene either to highly syndiotactic or to stereoirregular polymer. Some preliminary information about the features of propylene polyinsertion is also reported.

Expansion of the 20–24 ppm region of the ¹³C NMR spectrum of sample 2. The starred resonance at 21.75 ppm and the shoulders are not assigned.     

Searching for Wolbachia (Rickettsiales: Rickettsiaceae) in mosquitoes (Diptera: Culicidae): large polymerase chain reaction survey and new identifications

Bacteria of the genus Wolbachia constitute a group of intracellular and maternally inherited micro-organisms that are widespread in arthropods, inducing several reproductive disorders such as cytoplasmic incompatibility in their hosts. Considering relevant biological implications related to the presence of Wolbachia in several insect orders, for example its potential role as mechanism for rapid speciation and as vehicle to drive genetic markers in wild populations of vectors of medical and veterinary interest, we carried out an extensive polymerase chain reaction survey to detect Wolbachia in several species of mosquito belonging to genera involved in the transmission of pathogens. Five species out of 26 tested have shown to be infected; for four of them this is the first evidence of the Wolbachia infection. A phylogenetic analysis was also performed, positioning the five Wolbachia strains in the phyletic subdivision B.     

Produktion von 2-Tridecanon durch verschiedene Kultur- und Wildtomatenpflanzen (Lycopersicon spp.)

8 cultivars of the commercial tomato ( LYCOPERSICON ESCULENTUM) and 4 species of wild tomato plants ( L. HIRSUTUM, L. PIMPINELLIFOLIUM, L. GLANDULOSUM, L, PERUVIANUM) were investigated with regard to their production of 2-tridecanone in leaflets, petioles and stems during different stages of development and under different conditions of cultivation. The significance of 2-tridecanone as defence substance against fungal pathogens and pests of LYCOPERSICON spp. is discussed.     

Barriers and Facilitators to Effective Implementation of the NAMWEZA Intervention in Dar es Salaam,Tanzania

Prevention Science - The NAMWEZA intervention was implemented, using a ten-session group format, to build skills targeting psychosocial vulnerabilities and enhancing HIV prevention among people...     

Food Program Participation Influences Nutrition Practices in Early Care and Education Settings

ObjectiveTo determine differences by Child and Adult Care Food Program (CACFP) participation on nutrition requirements and best practices and barriers to implementing both in early care and education programs (ECEs) stratified by context (centers vs home-based ECEs).DesignCross-sectional survey.SettingThree-thousand and fourteen licensed Nebraska ECEs in 2017.ParticipantsOne-thousand three hundred forty-five ECEs.Main Outcome Measure(s)Director-reported nutrition practices in classrooms serving children aged 2-5 years (8 requirements for foods served, 5 best practices for foods served, and 14 best practices for mealtime behaviors).AnalysisChi-square analysis adjusted for multiple comparisons.ResultsOf the sample, 86.8% participated in CACFP, 21.7% were center-based, and 78.3% were home-based. Overall, CACFP participation was related to the higher implementation of CACFP requirements for foods served (P < 0.004 for all) and receiving professional development on nutrition (P < 0.012). In home-based ECEs only, CACFP participation was related to a higher prevalence of serving meals family-style (P = 0.002); however, these practices had low implementation overall.Conclusion and ImplicationsFindings suggest strengthening of requirements to include staff mealtime behaviors beyond service of healthful foods. Improving CACFP enrollment and including CACFP standards in state licensing requirements may be key strategies for improving nutrition practices in ECEs.     

Hospital-at-Home Expands Hospital Capacity During COVID-19 Pandemic

A Coronavirus Disease 2019 (COVID-19)–specific Hospital-at-Home was implemented in a 400-bed tertiary hospital in Barcelona, Spain. Senior or immune-compromised physicians oversaw patient care. The alternative to inpatient care more than doubled beds available for hospitalization and decreased the risk of transmission among patients and health care professionals. Mild cases from either the emergency department or after hospital discharge were deemed suitable for admission to the Hospital-at-Home. More than half of all patients had pneumonia. Standardized protocols and management criteria were provided. Only 6% of cases required referral for inpatient hospitalization. These results are promising and may provide valuable insight for centers undertaking Hospital-at-Home initiatives or in the case of new COVID-19 outbreaks.     

Right Ventricle Dysfunction in Patients With Adult Cystic Fibrosis Enlisted for Lung Transplant

Knowledge of preoperative right heart function of adult patients with cystic fibrosis (CF) awaiting lung transplant (LUTX) is limited. The echocardiography of adult patients with CF enlisted for LUTX was retrospectively analyzed and compared with standards and invasive analyses (right heart catheterization, multigated radionuclide ventriculography). We included 49 patients (reported as mean ± standard deviation; 29 ± 9 years of age; forced expiratory volume in first second of expiration, 31% ± 11% predicted; lung allocation score, 36 ± 5; invasive mean pulmonary artery pressure, 17 ± 5 mm Hg; multigated radionuclide ventriculography right ventricle [RV] ejection fraction, 50% ± 9%). Patients had increased RV end-diastolic area, RV wall thickness, and increased pulmonary artery acceleration time with subnormal tricuspid annular plane systolic excursion, tissue Doppler positive peak systolic velocity, and fraction area change. Subnormal tricuspid annular plane systolic excursion (< 23 mm), tissue Doppler positive peak systolic velocity (< 14 cm/s), and fraction area change (< 49%) had high sensitivity and negative predictive value in predicting impaired RV.ejection fractionA good correlation between echocardiographic estimated and invasively measured systolic pulmonary artery pressure was observed (R² = 0.554, P < .001). Adults with CF awaiting LUTX have morphologic alterations of the right heart, with subclinical impairment of RV systolic function. Echocardiography may be used as a bedside, repeatable, and reliable noninvasive test to screen further deterioration in RV function while on the waiting list for LUTX. More prospective follow-up echocardiographic studies are necessary to confirm such a hypothesis.