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Las mujeres mayores viven en situación de soledad, violencia, analfabetismo, pobreza y por consecuencia, su estado de salud se ve afectado.Objetivo: Distinguir los cuidados que necesitan las mujeres mayores autónomas, para favorecer su salud.Materiales y método: La investigación es mixta, se inicia con la valoración de las condiciones de salud de las mujeres mayores, mediante el empleo de la Escala de depresión geriátrica de Yesavage, Índice de Katz de independencia en las actividades de la vida y la Escala de recursos sociales (OARS); estas se aplicaron a una muestra de 177 mujeres, bajo criterio del investigador. Estos datos se analizaron a través del programa SPSS v22, obteniendo porcentajes y correlaciones. También se aplicó una entrevista semiestructurada a profundidad a 10 adultas mayores, utilizando la metodología fenomenológica; éstas se transcribieron, codificaron y agruparon en dimensiones considerando los contenidos centrales de cada unidad temática mediante el análisis de contenido. Resultados: El 93% de las mujeres mayores son independientes en todas sus ABVD, el 40.3% y el 37.0% cuentan con excelentes y buenos recursos sociales respectivamente y el 85.6% no tienen depresión. En los argumentos de las entrevistas se encontró que para las mujeres mayores, la salud es sinónimo de actividad e independencia, y emplean la fe y el acompañamiento como estrategias de afrontamiento y para sentirse aceptadas, evitar la soledad y mejorar su autoestima.Conclusiones: Las mujeres mayores requieren cuidados de enfermería que contemplen el acompañamiento y la expresión de su fe.

The aim of this study is to analyse the reproductive behavior of women users of the Public Health Service, residents in different zones of the city of Natal-RN, Brazil. The data had been collected through a structuralised questionnaire applied to women of fertile age that were seeking attendance at some of the selected public health services, during the months of January-March 2004. The highest pregnancy rates were found in the most populous zones where fecundity is highest and the socioeconomic patterns are lower. Among the pregnant women, 70% had not planned the pregnancy and had reported the fact of not using any contraceptive method or using it in a irregular manner as the main reason for becoming pregnant.

Missing pedigrees may produce bias in genomic evaluations. Thus, strategies to deal with this problem have been proposed as using unknown parent groups (UPG) or truncated pedigrees. The aim of this study was to investigate the impact of modeling missing pedigrees under single-step genomic best linear unbiased prediction (ssGBLUP) evaluations for productive and reproductive traits in dairy buffalo using different approaches: (1) traditional BLUP without UPG (BLUP), (2) traditional BLUP including UPG (BLUP/UPG), (3) ssGBLUP without UPG (ssGBLUP), (4) ssGBLUP including UPG in the A and A 22 matrices (ssGBLUP/A_UPG), (5) ssGBLUP including UPG in all elements of the H matrix (ssGBLUP/H_UPG), (6) BLUP with pedigree truncation for the last 3 generations (BLUP/truncated), and (7) ssGBLUP with pedigree truncation for the last 3 generations (ssGBLUP/truncated). Unknown parent groups were not used in the scenarios with truncated pedigree. A total of 3,717, 4,126, and 3,823 records of the first lactation for accumulated 305-d milk yield (MY), age at first calving (AFC), and lactation length (LL), respectively, were used. Accuracies ranged from 0.27 for LL (BLUP) to 0.46 for MY (BLUP), bias ranged from -0.62 for MY (ssGBLUP) to 0.0002 for AFC (BLUP/truncated), and dispersion ranged from 0.88 for MY (BLUP/A_UPG) to 1.13 for LL (BLUP). Genetic trend showed genetic gains for all traits across 20 years of selection, and the impact of including genomic information, UPG, or pedigree truncation under GEBV accuracies ranged among the evaluated traits. Overall, methods using UPG, truncation pedigree, and genomic information exhibited potential to improve GEBV accuracies, bias, and dispersion for all traits compared with other methods. Truncated scenarios promoted high genetic gains. In small populations with few genotyped animals, combining truncated pedigree or UPG with genomic information is a feasible approach to deal with missing pedigrees., (The Authors. Published by Elsevier Inc. on behalf of the American Dairy Science Association®. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).)

Purpose: There is variable and suboptimal use of fascia iliaca compartment nerve blocks (FICBs) in hip fracture care. Our objective was to use an evidence-based and theory-informed implementation science approach to analyze barriers and facilitators to timely administration of FICB and select evidence-based interventions to enhance uptake., Methods: We conducted a qualitative study at a single centre using semistructured interviews and site observations. We interviewed 35 stakeholders including health care providers, managers, patients, and caregivers. We mapped barriers and facilitators to the Theoretical Domains Framework (TDF) and Consolidated Framework for Implementation Research (CFIR). We compared the rate and timeliness of FICB administration before and after evidence-based implementation strategies were applied., Results: The study identified 18 barriers and 11 facilitators within seven themes of influences of FICB use: interpersonal relationships between health care professionals; clinician knowledge and skills related to FICB; roles, responsibilities, and processes for delivering FICB; perceptions on using FICB for pain; patient and caregiver perceptions on using FICB for pain; communication of hip fracture care between departments; and resources for delivering FICBs. We mapped the behaviour change domains to eight implementation strategies: restructure the environment, create and distribute educational materials, prepare patients to be active participants, perform audits and give feedback, use local opinion leaders, use champions, train staff on FICB procedures, and mandate change. We observed an increase in the rates of FICBs administered (48% vs 65%) and a decrease in the median time to administration (1.63 vs 0.81 days)., Conclusion: Our study explains why FICBs are underused and shows that the TDF and CFIR provide a framework to identify barriers and facilitators to FICB implementation. The mapped implementation strategies can guide institutions to improve use of FICB in hip fracture care., (© 2023. Canadian Anesthesiologists' Society.)

Background: Adolescents and young adults (AYAs; ages 15-29 years) diagnosed with cancer are increasingly recognized as an oncology population with distinct psychosocial needs. However, few specialized psychosocial interventions for AYAs currently exist. This study reports on the development of a novel group-based psychotherapy intervention to address the psychosocial needs of AYAs. The objective was to evaluate the acceptability, feasibility, and preliminary effects of the intervention., Methods: The manualized group psychotherapy program is delivered virtually over an 8-week period by registered psychologists. Four groups (n = 5-11 AYAs per group) with a total of N = 33 participants (M age  = 20.97 years, SD = 3.68, range = 15-29 years, 76% women) were conducted. Recruitment and retention data assessed intervention feasibility. Patient-reported psychosocial outcomes were measured at baseline and immediately following the intervention to assess preliminary effects. Acceptability was assessed following the intervention using a self-report measure of participant satisfaction., Results: Overall, the completion rate of the intervention was 85% (n = 28). All participants "strongly agreed" (88%) or "agreed" (13%) that they were satisfied with the group. Meeting, sharing experiences, and expressing feelings with other AYAs were identified as the most helpful aspects. Participants reported significant improvements in emotional (p < 0.05) and functional (p < 0.01) quality of life from baseline to immediately post-intervention with medium effect sizes (d = 0.58-0.70)., Conclusions: Findings suggest that the intervention is feasible, acceptable, and shows promise for improving psychosocial outcomes for AYAs. Further research will refine the intervention and establish efficacy in a randomized trial., (© 2024 The Authors. Psycho‐Oncology published by John Wiley & Sons Ltd.)

Mesomelic skeletal dysplasia is a heterogeneous group of skeletal disorders that has grown since the molecular basis of these conditions is in the process of research and discovery. Here, we report a Brazilian family with eight affected members over three generations with a phenotype similar to mesomelic Kantaputra dysplasia. This family presents marked shortening of the upper limbs with hypotrophy of the lower limbs and clubfeet without synostosis. Array-based CNV analysis and exome sequencing of four family members failed to show any region or gene candidate. Interestingly, males were more severely affected than females in this family, suggesting that gender differences could play a role in the phenotypic expressivity of this condition., (© 2023 Wiley Periodicals LLC.)

Introduction: The antidepressant properties of ketamine have been extensively demonstrated in experimental and clinical settings. However, the psychotomimetic side effects still limit its wider use as an antidepressant. It was recently observed that endocannabinoids are inolved in ketamine induced reward properties. As an increase in endocannabinoid signaling induces antidepressant effects, this study aimed to investigate the involvement of cannabinoid type 1 receptors (CB 1 R) in the antidepressant and psychostimulant effects induced by ketamine. Methods: We tested the effects of genetic and pharmacological inhibition of CB 1 R in the hyperlocomotion and antidepressant-like properties of ketamine. The effects of ketamine (10-20 mg/kg) were assessed in the open-field and the forced swim tests (FSTs) in CB 1 R knockout (KO) and wild-type (WT) mice (male and female), and mice pre-treated with rimonabant (CB 1 R antagonist, 3-10 mg/kg). Results: We found that the motor hyperactivity elicited by ketamine was impaired in CB 1 R male and female KO mice. A similar effect was observed upon pharmacological blockade of CB 1 R in WT mice. However, genetic CB 1 R deletion did not modify the antidepressant effect of ketamine in male mice submitted to the FST. Surprisingly, pharmacological blockade of CB 1 R induced an antidepressant-like effect in both male and female mice, which was not further potentiated by ketamine. Conclusions: Our results support the hypothesis that CB 1 R mediate the psychostimulant side effects induced by ketamine, but not its antidepressant properties.

Background: The Canadian Task Force on Preventive Health Care (task force) develops evidence-based preventive health care guidelines and knowledge translation (KT) tools to facilitate guideline dissemination and implementation. We aimed to determine practitioners' awareness of task force guidelines and KT tools and explore barriers and facilitators to their use., Methods: The task force's KT team completed annual evaluations using surveys and interviews with primary care providers in Canada from 2014 to 2020, to assess practitioners' awareness and determinants of use of task force guidelines and tools. We transcribed interviews verbatim and double-coded them using a framework analysis approach., Results: A total of 1284 primary care practitioners completed surveys and 183 participated in interviews. On average, 79.9% of participants were aware of the task force's 7 cancer screening guidelines, 36.2% were aware of the other 6 screening guidelines and 18.6% were aware of the 3 lifestyle or prevention guidelines. Participants identified 13 barriers and 7 facilitators to guideline and KT tool implementation; these were consistent over time. Participants identified strategies at the public and patient, provider and health systems levels to improve uptake of guidelines., Interpretation: Canadian primary care practitioners were more aware of task force cancer screening guidelines than its other preventive health guidelines. Over the 6-year period, participants consistently reported barriers to guideline uptake, including misalignment with patient preferences and other provincial or specialty guideline organizations. Further evaluations will assess tailored strategies to address the barriers identified., Competing Interests: Competing interests: The KT Program, Unity Health Toronto (Christine Fahim, Anupa [Jyoti] Prashad, Kyle Silveira, Arthana Chandraraj, Sharon Straus) and Kim Barnhardt are contracted by the Canadian Task Force on Preventive Health Care (task force) to conduct all knowledge translation work. Brett Thombs, Marcello Tonelli, Guylène Thériault, Roland Grad, John Riva, Heather Colquhoun were members of the task force at time of study. The task force is funded by the Public Health Agency of Canada. Marco Tonelli is the former chair of the task force. Guylène Thériault is a member of the board of Choosing Wisely Quebec and sometimes participates as a consultant with Institut national d’excellence en santé et en services sociaux (INESSS), time reimbursed by the Régie de l’assurance maladie du Québec (RAMQ). Kim Barnhardt acted as a communications consultant but was not paid as a co-author of the article. No other competing interests were declared., (© 2023 CMA Impact Inc. or its licensors.)

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148/149) mutations in KIF22. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally, tracheolaryngomalacia; additionally, radiological features include severe epi-metaphyseal abnormalities and slender metacarpals. This report evaluates the progression of SEMDJL2 throughout the life of the oldest individual reported in the literature-a 66-year-old man with a pathogenic KIF22 variant (c.443C > T, p.Pro148Leu). The proband developed many of the clinical and radiological alterations consistent with the presentation of other individuals in the literature. Interestingly, throughout his life, joint limitation progressed, beginning with knee and elbow stricture (year 20), and later, limitation of the shoulders, hips, ankles, and wrists (year 40). This differs from previous case reports, where joint limitation is identified in 1-to-2 joints. Cumulatively, the progressive body-wide joint limitation resulted in early retirement (year 45) and difficulty completing daily tasks and managing personal hygiene culminating in the need for assisted living (year 65). In conclusion, we report on the clinical and radiological developments of a 66-year-old man with SEMDJL2, that developed significant joint limitation in adulthood., (© 2023 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals LLC.)

Indian lotus (Nelumbo nucifera) is one of the dominant aquatic plants cultivated in Dal Lake, situated at 1586 m above mean sea level (MSL) in the northeast of Srinagar, Kashmir. Despite their economic and ecological role, the microbial communities associated with the lotus plant are still unexplored. In this study, we investigated the prokaryotic communities on surfaces of different lotus microhabitats (roots, rhizome, leaves, flowers, and fruits), lake water, and sediments using 16S rRNA gene amplicon sequencing. Overall, prokaryotic diversity decreased significantly on the surface of lotus microhabitats in comparison to the lake water and sediments. Among the microhabitats of lotus, roots and leaves harbored more diverse communities in comparison to rhizomes, fruits, and flowers. A total of 98 genera were shared by lotus and the Dal Lake sediments and water. However, significant differences were found in their relative abundance; for example, Pseudomonas was the most dominant genus on the majority of lotus microhabitats. On the other hand, Flavobacterium was highly abundant in the lake water, while a higher abundance of Acinetobacter was recorded in sediments. Additionally, we also noted the presence of potential human pathogenic genera including Escherichia-Shigella, Enterobacter, Pantoea, Raoultella, Serratia, and Sphingomonas on the lotus microhabitats. Predicted functions of prokaryotic communities revealed a higher abundance of genes associated with nutrient uptake in the microhabitats of the lotus. This study offered first-hand information on the prokaryotic communities harbored by lotus plants and water and sediments of the Dal Lake and demonstrated the adaptation of diverse communities to microhabitats of lotus., (© 2022. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Introduction: Pathogenic variants in the SLC26A2/DTDST gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of SLC26A2/DTDST -related disorders., Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS). We reviewed data from the literature regarding phenotype, zygosity, and genotype in parallel., Results: The local cohort enrolled 12 patients, including one with a Desbuquois-like phenotype. All but one showed biallelic mutations, however, only one allele mutated in a fetus presenting ACG1B was identified. The literature review identified 42 articles and the analyses of genotype and zygosity included the 12 local patients., Discussion: The R279W variant was the most prevalent among the local patients. It was in homozygosity (hmz) in 2 patients with rMED and in compound heterozygosity (chtz) in 9 patients. The genotype and zygosity review of all patients led to the following conclusions: DTD is the most common phenotype in Finland due to a Finnish mutation (c.727-1G>C). Outside of Finland, rMED is the most prevalent phenotype, usually associated with R279W in hmz. In contrast, DTD's genotype is usually in chtz. Despite a large number of variants (38), just 8 are recurrent (R279W, C653S, c.-26+2T>C, R178*, K575Sfs*10, V340del, G663R, T512K). The last 3 in hmz lead to lethal phenotypes. The Finnish mutation is found only in chtz outside of Finland, being associated with all 4 classical phenotypes. The p.R178* and p.K575Sfs*10 variants should be viewed as lethal mutations since both were mainly described with lethal phenotypes and were never reported in hmz. The existence of 9 patients with only one mutated allele suggests that other mutations in the other allele of these patients still need to be unveiled., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2022 by S. Karger AG, Basel.)

Objectives: The primary objective of this study was to determine sharps disposal practices among people with diabetes in a community care clinic. Secondary objectives were to identify patterns of sharps use and barriers to proper use., Methods: Surveys were distributed to patients at a community care clinic in person and via mail. Survey questions focused on how sharps are used and disposed of, the frequency of sharps changes, sharps disposal training, sharps identification, and confidence in sharps disposal. Participant demographics and diabetes profiles were also collected., Findings: Among 89 respondents, mean age was 60 years (range 29-93 years), 61.8% were Caucasian, 88.8% had type 2 diabetes, and 60.7% had had a diabetes diagnosis for ≤10 years, with diverse diabetes management methods; 57.3% did not receive or were unsure of sharps training, 25.8% discarded used sharps without a designated sharps container, and 37.1% properly disposed of sharps containers at sharps disposal facilities. Barriers to proper sharps practices included perceived safety of reusing sharps and waste with single use, cost, and the hassle of disposal. Those with prior sharps training were more likely to properly use and discard sharps; however, gaps in knowledge were still evident in this population., Conclusion: Results indicate gaps in proper sharps use and disposal knowledge among people with diabetes. Responses revealed sharps practices that are inconsistent with current federal and state regulations and are potentially dangerous for those handling improperly discarded sharps. Targeted sharps usage and disposal education resources are needed for individuals with and without prior sharps training., (© 2022 by the American Diabetes Association.)

Objective: To evaluate reliability and validity of the six and 12 item Patient Engagement Evaluation Tool (PEET) to inform guideline developers about the quality of patient and public involvement activities., Study Design and Setting: PEET-12 and three embedded validation questions were completed by patients and members of the public who participated in developing 10 guidelines between 2018 and 2020. Confirmatory factor analysis (CFA) was used to assess the validity of a single-dimension factor structure. Cronbach's alpha and Pearson correlations were calculated for internal consistency reliability. Concurrent validation was used to test the construct validity., Results: A total of 290 participants completed the PEET-12. To improve tool efficiency, based on results indicating redundancy from initial item analysis and experts' review, six of 12 items were included in the final tool (PEET-6). For the PEET-6, CFA supported the single-factor structure (χ 2 (15) = 5173.4, P < 0.001, Tucker-Lewis Index = 1.00, Comparative Fit Index = 0.99, Root Mean Square Error of Approximation = 0.08). Correlation between the total score for the 3 validation questions and the PEET-6 total score was 0.71, 95% CI [0.65, 0.77], supporting construct validity., Conclusion: PEET-6 and 12 are valid tools to measure patient and public involvement within settings of clinical practice guideline development., (Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.)

Purpose: Eosinophils are one of the main cells responsible to the inflammatory response in asthma by the release of inflammatory molecules such as cytokines, reactive oxygen species (ROS), cytotoxic granule, eosinophil extracellular trap (EET), and lipid mediators as cysteinyl leukotriene (cysLT). The interconnections between these molecules are not fully understood. Here, we attempted to investigate the cysLT participation in the mechanisms of EET formation in an asthma model of OVA challenge., Materials and Methods: Before intranasal challenge with OVA, BALB/cJ mice were treated with a 5-lipoxygenase-activating protein (FLAP) inhibitor (MK-886), or with a cysLT1 receptor antagonist (MK-571) and the lung and bronchoalveolar lavage fluid (BALF) were analyzed., Results: We showed that OVA-challenged mice treated with MK-886 or MK-571 had a decrease in inflammatory cells, goblet cells hyperplasia, and eosinophil peroxidase (EPO) activity in the airway. However, only OVA-challenged mice treated with MK-571 had an improvement in lung function. Also, treatments with MK-886 or MK-571 decreased Th2 cytokines levels in the airway. Moreover, we observed that OVA-challenged mice treated with MK-886 or MK-571 had a decrease in EET formation in BALF. We also verified that EET release was not due to cell death because the cell viability remained the same among the groups., Conclusion: We revealed that the decrease in cysLT production or cysLT1 receptor inhibition by MK-886 or/and MK-571 treatments, respectively reduced EET formation in BALF, showing that cysLT regulates the activation process of EET release in asthma.

Background and Purpose: Although useful as a rapid-acting antidepressant drug, ketamine is known to induce psychotomimetic effects, which may interfere with its therapeutic use. Cannabidiol (CBD) is a non-psychostimulant compound from Cannabis sativa, which has shown promising antidepressant effects without inducing hyperlocomotion. AMPA receptor activation is involved in the antidepressant effect induced by ketamine, but its relevance for the effects of CBD is not known. Moreover, given that CBD has antipsychotic and antidepressant properties, it is unknown whether adding CBD to ketamine could potentiate the antidepressant properties of ketamine while also attenuating its psychostimulant effects., Experimental Approach: S-Ketamine (2.5, 3, 5, 10, 30 mg/kg) and cannabidiol (3, 10, 30 mg/kg) were administered alone or in combination to male Swiss mice. Independent groups received NBQX (AMPA receptor antagonist) 5 min before administration of CBD or S-ketamine. The antidepressant-like effect was assessed in the forced swimming test (FST), and the open field test (OFT) evaluated the psychostimulant effect., Key Results: CBD induced significant dose-dependent antidepressant effects without causing hyperlocomotion in the OFT. S-ketamine produced an antidepressant effect associated with hyperlocomotion in the higher dose. NBQX inhibited the antidepressant effect of both ketamine and CBD. Pretreatment with CBD (10 mg/kg) attenuated the ketamine-induced hyperlocomotion while preserving its antidepressant effect., Conclusion: AND IMPLICATIONS: Similar to ketamine, the antidepressant-like effect elicited by CBD involves AMPA receptor activation. Additionally, CBD prevents the hyperlocomotion induced by S-ketamine without affecting its antidepressant-like effect. Our findings suggest that CBD and ketamine's combined administration can be a promising therapeutic strategy for achieving an appropriate antidepressant effect without unwanted side-effects. This article is part of the special issue on 'Cannabinoids'., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)

A trauma history is present in approximately 90% of adults in the United States. Comparatively, lifetime post-traumatic stress disorder (PTSD) prevalence is only 8.3% (Kilpatrick et al. Journal of Traumatic Stress, 26, 537-547, 2013). A neuropsychological understanding of trauma is essential to effective trauma-informed assessments and treatments. Prior reviews have focused on PTSD, specific neuropsychological domains, and statistically rather than clinically significant results. The current systematic review investigated standardized test performance across neuropsychological domains in participants with trauma histories and any psychiatric diagnosis. The review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. From 2350 records, the search returned 21 eligible studies: 8 for combat trauma, 2 for childhood trauma, 2 for intimate partner violence and sexual assault, 2 for accidental trauma, 1 for refugee trauma, and 6 for unspecified trauma. Mean neuropsychological scores ranged from low to high average, with one mean verbal memory score in the borderline range. These findings diverge from reports of between-group differences or experimental task performance, which suggest greater levels of static cognitive impairment. Current results are limited by lack of distinction between trauma types in the literature, a dearth of cognitive domains examined, wide use of self-report trauma measures, and publication and outcome reporting biases. Clinical implications for assessment and rehabilitation are discussed in relation to clinical significance, state versus trait based changes, intra-individual variability, changes from pre- to post-trauma, and within-group variability in resilience. Future directions are recommended in consideration of cultural factors, prospective and follow-up designs, and psychiatric diagnosis.

Yoga is a holistic practice that - when incorporated effectively into neurorehabilitation - has potential to meet the complex needs of persons with acquired brain injury (ABI). This systematic review, conducted in accordance with PRISMA guidelines, investigated cognitive, physical, and psychological outcomes following controlled trials of yoga for ABI. The search returned six eligible studies, four of which focused specifically on stroke rehabilitation. For persons with ABI broadly, within-group improvements were found after yoga for psychological and physical adjustment, quality of life, and respiratory functioning. For stroke specifically, physical and memory recovery was greater in the yoga group vs. exercise control, and within-group improvements were noted for motor functioning, self-efficacy, and quality of life outcomes. Lack of (1) between-group analyses despite the inclusion of control groups, and (2) a common yoga rehabilitation protocol including frequency, length, and duration of yoga must be addressed in future research to establish efficacy of these interventions. Considerations for psychophysiological outcome measures and cultural factors are presented in the context of future research and clinical directions.

The thyroid hormone receptor interactor 11 (TRIP11) gene encodes the Golgi microtubule-associated protein 210 (GMAP-210), a protein essential for the operation of the Golgi apparatus. It is known that null mutations in TRIP11 disrupt Golgi function and cause a lethal skeletal dysplasia known as achondrogenesis type 1A (ACG1A), however recently, hypomorphic mutations in that gene have been linked to odontochondrodysplasia (ODCD), a nonlethal skeletal dysplasia characterized by skeletal changes in the spine and in the metaphyseal regions, associated with dentinogenesis imperfecta. Here we present two patients reflecting the phenotypic spectrum related to different TRIP11 variants. The first is a female child with ODCD, for whom a homozygous in-frame splicing mutation in intron 9 of TRIP11 was identified. The mutation appears to lead to the expression of an alternative TRIP11 transcript, that may explain the less severe radiological alterations in ODCD. The second is a fetus with classical form of ACG1A, associated with typical molecular findings (frameshift) in exon 11 of TRIP11, both novel mutations. The two patients reported here represent the TRIP11 spectrum of skeletal dysplasia ranging from mild to lethal phenotypes, thereby enabling one to suggest a genotype-phenotype correlation in these diseases., (© 2020 Wiley Periodicals, Inc.)

Objective: To translate the King's Brief Interstitial Lung Disease (K-BILD) questionnaire to Portuguese and culturally adapt it for use in Brazil. The K-BILD quantifies the health status of patients with ILD., Methods: The process involved the following steps: authorization from the author of the original (English-language) questionnaire; translation of the questionnaire to Portuguese by three translators, working independently; merging of the translations by a committee of specialists; back-translation of the questionnaire to English; revision and readjustment of the back-translation by the committee of specialists; evaluation by the original author; revision of the back-translation; cognitive debriefing (verification of the clarity and acceptability of the Portuguese-language version in the target population-i.e., patients with ILD); and finalization of the Portuguese-language version., Results: In the cognitive debriefing step, 20 patients with ILD were interviewed. After the interviews, the clarity and acceptability index of each question was ≥ 0.8, which is considered acceptable., Conclusions: The Portuguese-language version of K-BILD appears to be easily administered to and understood by patients with ILD in Brazil. To our knowledge, this is the only instrument in Brazilian Portuguese that is designed to evaluate the impact that ILD has on the various aspects of the lives of those it affects.

The objective of this study was to compare the bone repair along a mandibular body osteotomy stabilized with 2.0 mm absorbable and metallic systems. 12 male, adult mongrel dogs were divided into two groups (metallic and absorbable) and subjected to unilateral osteotomy between the mandibular third and fourth premolars, which was stabilized by applying two 4-hole plates. At 2 and 18 weeks, three dogs from each group were killed and the osteotomy sites were removed and divided equally into three parts: the upper part was labelled the tension third (TT), the lower part the compression third (CT), and the part between the TT and CT the intermediary third (IT). Regardless of the treatment system, union between the fragments was observed at 18 weeks and the CT showed more advanced stages of bone repair than the TT. Histometric analysis did not reveal any significant differences among the 3 parts or systems in the distance between bone fragments at 2 weeks. Although at 18 weeks the proportions of newly formed bone did not differ among TT, IT and CT, significantly enhanced bone formation was observed in all sections for the metallic group. The patterns of repair were distinct between treatments., (Copyright © 2012 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Disruption of sleep is a frequent complaint among elderly humans and is also evident in aged laboratory rodents. The neurobiological bases of age-related sleep/wake disruption are unknown. Given the critical role of the hypocretins in sleep/wake regulation, we sought to determine whether the wake-promoting effect of hypocretin changes with age in Wistar rats, a strain in which age-related changes in both sleep and hypocretin signaling have been reported. Intracerebroventricular infusions of hypocretin-1 (10 and 30 μg) significantly increased wake time relative to vehicle in both young (3 mos) and old (25 mos) Wistar rats. However, the magnitude and duration of the wake-promoting effects were attenuated with age. An increase of parameters associated with homeostatic sleep recovery after sleep deprivation, including non-rapid eye movement (NR) sleep time, NR delta power, the ratio of NR to rapid eye movement (REM) sleep, and NR consolidation, occurred subsequent to Hcrt-induced waking in young but not old rats. ICV infusions of hypocretin-2 (10 and 30 μg) produced fewer effects in both young and old rats. These data demonstrate that activation of a major sleep/wake regulatory pathway is attenuated in old rats., (Copyright © 2009 Elsevier Inc. All rights reserved.)

The objective of the present study was to determine if there is a health-related quality of life (HRQL) instrument, generic or specific, that better represents functional capacity dysfunction in idiopathic pulmonary fibrosis (IPF) patients. HRQL was evaluated in 20 IPF patients using generic and specific questionnaires (Medical Outcomes Short Form 36 (SF-36) and Saint George's Respiratory Questionnaire (SGRQ), respectively). Functional status was evaluated by pulmonary function tests, 6-min walking distance test (6MWDT) and dyspnea indexes (baseline dyspnea index) at rest and after exercise (modified Borg scale). There was a restrictive pattern with impairment of diffusion capacity (total lung capacity, TLC = 71.5 +/- 15.6%, forced vital capacity = 70.4 +/- 19.4%, and carbon monoxide diffusing capacity = 41.5 +/- 16.2% of predicted value), a reduction in exercise capacity (6MWDT = 435.6 +/- 95.5 m) and an increase of perceived dyspnea score at rest and during exercise (6 +/- 2.5 and 7.1 +/- 1.3, respectively). Both questionnaires presented correlation with some functional parameters (TLC, forced expiratory volume in 1 s and carbon monoxide diffusing capacity) and the best correlation was with TLC. Almost all of the SGRQ domains presented a strong correlation with functional status, while in SF-36 only physical function and vitality presented a good correlation with functional status. Dyspnea index at rest and 6MWDT also presented a good correlation with HRQL. Our results suggest that a specific instead of a generic questionnaire is a more appropriate instrument for HRQL evaluation in IPF patients and that TLC is the functional parameter showing best correlation with HRQL.