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1.
AJP Rep ; 14(2): e188-e192, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38860132

RESUMEN

Cancer in pregnancy is rare, with incidence less than 1%, and the most common cancers being melanoma, breast, and cervical cancers. Fibromyxoid sarcoma is a soft tissue tumor involving deep soft tissues of the extremities and trunk, rarely located in the abdomen. A low-grade fibromyxoid sarcoma (LGFMS) falls in the family of fibrosarcoma. Only two cases of LGFMS in pregnancy have been reported. We report a case of abdominal LGFMS in pregnancy leading to preterm labor, sepsis, and an acute abdomen requiring surgery in the third trimester. A 19-year-old woman, gravida 1 at 32 weeks and 5 days presented to an outside hospital with preterm contractions and cervical effacement. She had a known abdominal mass, suspected to be accessory liver lobe, measuring 9.0 × 6.4 × 7.7 cm in the right upper quadrant. At 33 weeks of gestation, she developed fever and hypotension. Magnetic resonance imaging confirmed the presence of the mass, which was now on the left side of the abdomen and associated with a suspected abscess. She underwent cesarean delivery, and complete surgical resection of the mass along with a small bowel resection. Final pathology of the mass revealed a LGFMS. This case also highlights the need for a multidisciplinary approach to manage a rare presentation of sepsis and preterm labor in pregnancy.

2.
Reg Anesth Pain Med ; 2024 May 30.
Artículo en Inglés | MEDLINE | ID: mdl-38821537

RESUMEN

BACKGROUND: Unanticipated postoperative thrombotic complications can occur in complex patients who receive preoperative epidurals. Therefore, it is imperative that we consider the risks and benefits of epidural management in the setting of therapeutic anticoagulation. We present a case of epidural catheter removal on a heparin infusion, due to the extreme risk of holding anticoagulation for any duration. CASE REPORT: A woman with hilar cholangiocarcinoma presented after uncomplicated hepatectomy, bile duct resection and hepaticojejunostomy, with a thoracic epidural for analgesia. On postoperative day 1, she developed a total portal vein thrombosis, requiring emergent open thrombectomy, transhepatic stenting and high-dose heparin infusion while the epidural was indwelling. The patient was deemed to have a profound risk of re-thrombosis if heparin were paused. Therefore, a multidisciplinary discussion between hepatobiliary surgery, critical care, neurosurgery, haematology, acute pain service and the patient's family ensued regarding epidural management. Options included catheter-directed thrombolytics to her stent while holding systemic anticoagulation, sterilely leaving the epidural catheter in place indefinitely, injecting prothrombotic agent into the epidural prior to removal, or removing the catheter without holding anticoagulation. Due to the risk of re-thrombosis in the portal vein and liver infarction, the heparin infusion was decreased to achieve the lowest therapeutic anti-Xa level, and the epidural was removed. The patient was continuously monitored in the intensive care unit without any adverse events. CONCLUSION: A multidisciplinary discussion is paramount to weigh the risk of epidural haematoma if a catheter is removed on therapeutic anticoagulation against catastrophic thrombosis if anticoagulation is paused.

3.
Br J Clin Pharmacol ; 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38817150

RESUMEN

AIMS: To investigate perioperative opioid requirements in patients on methadone or buprenorphine as medication for opioid-use disorder (MOUD) who attended a transitional pain clinic (Personalized Pain Program, PPP). METHODS: This retrospective cohort study assessed adults on MOUD with surgery and attendance at the Johns Hopkins PPP between 2017 and 2022. Daily non-MOUD opioid use over 6 time-points was evaluated with regression models controlling for days since surgery. The time to complete non-MOUD opioid taper was analysed by accelerated failure time and Kaplan-Meier models. RESULTS: Fifty patients (28 on methadone, 22 on buprenorphine) were included with a median age of 44.3 years, 54% male, 62% Caucasian and 54% unemployed. MOUD inpatient administration occurred in 92.8% of patients on preoperative methadone but only in 36.3% of patients on preoperative buprenorphine. Non-MOUD opioid use decreased over time postoperatively (ß = -0.54, P < .001) with a median decrease of 90 mg morphine equivalents (MME) between the first and last PPP visit, resulting in 46% tapered off by PPP completion. Older age and duration in PPP were associated with lower MME, while mental health conditions, longer hospital stays and higher discharge opioid prescriptions were associated with higher MME. The average time to non-MOUD opioid taper was 1.79× longer in patients on buprenorphine (P = .026), 2.75× in males (P = .023), 4.66× with mental health conditions (P < .001), 2.37× with chronic pain (P = .031) and 3.51× if on preoperative non-MOUD opioids; however, higher initial MOUD level decreased time to taper (P = .001). CONCLUSIONS: Postoperative opioid tapering utilizing a transitional pain service is possible in patients on MOUD.

4.
BMC Plant Biol ; 24(1): 99, 2024 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-38331743

RESUMEN

BACKGROUND: Flavonoids are plant specialised metabolites, which derive from phenylalanine and acetate metabolism. They possess a variety of beneficial characteristics for plants and humans. Several modification steps in the synthesis of tricyclic flavonoids cause for the amazing diversity of flavonoids in plants. The 2-oxoglutarate-dependent dioxygenases (2-ODDs) flavanone 3-hydroxylase (F3H, synonym FHT), flavonol synthase (FLS) and anthocyanidin synthase (ANS, synonym leucoanthocyanidin dioxygenase (LDOX)), catalyse oxidative modifications to the central C ring. They are highly similar and have been shown to catalyse, at least in part, each other's reactions. FLS and ANS have been identified as bifunctional enzymes in many species, including Arabidopsis thaliana, stressing the capability of plants to bypass missing or mutated reaction steps on the way to flavonoid production. However, little is known about such bypass reactions and the flavonoid composition of plants lacking all three central flavonoid 2-ODDs. RESULTS: To address this issue, we generated a f3h/fls1/ans mutant, as well as the corresponding double mutants and investigated the flavonoid composition of this mutant collection. The f3h/fls1/ans mutant was further characterised at the genomic level by analysis of a nanopore DNA sequencing generated genome sequence assembly and at the transcriptomic level by RNA-Seq analysis. The mutant collection established, including the novel double mutants f3h/fls1 and f3h/ans, was used to validate and analyse the multifunctionalities of F3H, FLS1, and ANS in planta. Metabolite analyses revealed the accumulation of eriodictyol and additional glycosylated derivatives in mutants carrying the f3h mutant allele, resulting from the conversion of naringenin to eriodictyol by flavonoid 3'-hydroxylase (F3'H) activity. CONCLUSIONS: We describe the in planta multifunctionality of the three central flavonoid 2-ODDs from A. thaliana and identify a bypass in the f3h/fls1/ans triple mutant that leads to the formation of eriodictyol derivatives. As (homo-)eriodictyols are known as bitter taste maskers, the annotated eriodictyol (derivatives) and in particular the observations made on their in planta production, could provide valuable insights for the creation of novel food supplements.


Asunto(s)
Arabidopsis , Flavanonas , Humanos , Arabidopsis/metabolismo , Flavonoides/metabolismo , Regulación de la Expresión Génica de las Plantas , Plantas/metabolismo
6.
Prim Care ; 50(4): 591-599, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37866833

RESUMEN

The built environment encompasses buildings we live in; the distribution systems that provide us with water and electricity; and the roads, bridges, and transportation systems we use to get from place to place. It provides safety, health, and well-being and meaning to its dwellers, as a place to work, live, learn, play, and thrive. Poor-quality housing affects dwellers' health through toxins such as radon and lead, mold, cold indoor temperatures, and overcrowding. Physicians' practices should investigate their patients' diagnoses such as stress, depression, asthma, adverse childhood experiences, and anxiety, as potentially housing-related and make ameliorating recommendations or referrals.


Asunto(s)
Vivienda , Determinantes Sociales de la Salud , Humanos , Entorno Construido , Ansiedad
7.
Front Neurol ; 14: 1258635, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37881311

RESUMEN

Background: This study relates to emerging concepts of appropriate trial designs to evaluate effects of intervention on the accumulation of irreversible disability in multiple sclerosis (MS). Major starting points of our study are the known limitations of current definitions of disability progression by rater-based clinical assessment and the high relevance of gait and balance dysfunctions in MS. The study aims to explore a novel definition of disease progression using repeated instrumental assessment of relevant motor functions performed by patients in their home setting. Methods: The study is a prospective single-center observational cohort study with the primary outcome acquired by participants themselves, a home-based assessment of motor functions based on an RGB-Depth (RGB-D) camera, a camera that provides both depth (D) and color (RGB) data. Participants are instructed to perform and record a set of simple motor tasks twice a day over a one-week period every 6 months. Assessments are complemented by a set of questionnaires. Annual research grade assessments are acquired at dedicated study visits and include clinical ratings as well as structural imaging (MRI and optical coherence tomography). In addition, clinical data from routine visits is provided semiannually by treating neurologists. The observation period is 24 months for the primary endpoint with an additional clinical assessment at 27 month to confirm progression defined by the Expanded Disability Status Scale (EDSS). Secondary analyses aim to explore the time course of changes in motor parameters and performance of the novel definition against different alternative definitions of progression in MS. The study was registered at Deutsches Register für Klinische Studien (DRKS00027042). Discussion: The study design presented here investigates disease progression defined by marker-less home-based assessment of motor functions against 3-month confirmed disease progression (3 m-CDP) defined by the EDSS. The technical approach was chosen due to previous experience in lab-based settings. The observation time per participant of 24, respectively, 27 months is commonly conceived as the lower limit needed to study disability progression. Defining a valid digital motor outcome for disease progression in MS may help to reduce observation times in clinical trials and add confidence to the detection of progression events in MS.

8.
Theor Appl Genet ; 136(8): 172, 2023 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-37439815

RESUMEN

KEY MESSAGE: A homoeologous non-reciprocal translocation was identified in the major QTL for seed lignin content in the low lignin line SGDH14. The lignin biosynthetic gene PAL4 was deleted. Oilseed rape is a major oil crop and a valuable protein source for animal and human nutrition. Lignin is a non-digestible, major component of the seed coat with negative effect on sensory quality, bioavailability and usage of oilseed rape's protein. Hence, seed lignin reduction is of economic and nutritional importance. In this study, the major QTL for reduced lignin content found on chromosome C05 in the DH population SGDH14 x Express 617 was further examined. SGDH14 had lower seed lignin content than Express 617. Harvested seeds from a F2 population of the same cross were additionally field tested and used for seed quality analysis. The F2 population showed a bimodal distribution for seed lignin content. F2 plants with low lignin content had thinner seed coats compared to high lignin lines. Both groups showed a dark seed colour with a slightly lighter colour in the low lignin group indicating that a low lignin content is not necessarily associated with yellow seed colour. Mapping of genomic long-reads from SGDH14 against the Express 617 genome assembly revealed a homoeologous non-reciprocal translocation (HNRT) in the confidence interval of the major QTL for lignin content. A homologous A05 region is duplicated and replaced the C05 region in SGDH14. As consequence several genes located in the C05 region were lost in SGDH14. Thus, a HNRT was identified in the major QTL region for reduced lignin content in the low lignin line SGDH14. The most promising candidate gene related to lignin biosynthesis on C05, PAL4, was deleted.


Asunto(s)
Brassica napus , Lignina , Humanos , Mapeo Cromosómico , Brassica napus/genética , Brassica napus/metabolismo , Sitios de Carácter Cuantitativo , Translocación Genética , Semillas/genética , Semillas/metabolismo
9.
J Telemed Telecare ; : 1357633X231162399, 2023 Mar 27.
Artículo en Inglés | MEDLINE | ID: mdl-36974433

RESUMEN

INTRODUCTION: Using a human factors engineering approach, the Johns Hopkins Personalized Pain Program adopted telemedicine for perioperative pain management in response to the COVID-19 pandemic. This study examines the impact of telemedicine adoption on the quality and outcomes of perioperative pain management. METHODS: A mixed-methods study with a convergent parallel design was conducted. From June 2017 to December 2021, 902 patients participated in the Personalized Pain Program. Quantitative data on daily opioid consumption, pain severity and interference, physical and mental health status, and patient satisfaction and engagement were continuously collected with all patients using chart review and patient surveys. Beginning 23 March 2020, the Personalized Pain Program transitioned to telemedicine. A pre-post quasi-experimental design was used to examine the impact of telemedicine. In addition, qualitative interviews were conducted with 3 clinicians and 17 patients to explore their experience with telemedicine visits. RESULTS: The monthly number of new patients seen in the Personalized Pain Program did not significantly change before and after telemedicine adoption. Compared to patients having in-person visits before the pandemic, patients having telemedicine visits during the pandemic achieved comparable improvements in daily opioid consumption, pain severity and interference, and physical health status. While telemedicine helped overcome many challenges faced by the patients, the limitations of telemedicine were also discussed. CONCLUSION: The COVID-19 pandemic stimulated the use of telemedicine. To facilitate telemedicine adoption beyond the pandemic, future research is needed to examine best practices for telemedicine adoption and provide additional evidence on the effectiveness of telemedicine.

10.
Eur J Neurol ; 30(5): 1352-1363, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36786305

RESUMEN

BACKGROUND AND PURPOSE: There are currently no biomarkers to select cryptogenic stroke (CS) patients for monitoring with insertable cardiac monitors (ICMs), the most effective tool for diagnosing atrial fibrillation (AF) in CS. The purpose of this study was to assess clinically available biomarkers as predictors of AF. METHODS: Eligible CS and cryptogenic transient ischaemic attack patients underwent 12-month monitoring with ICMs, clinical follow-up and biomarker sampling. Levels of cardiac and thromboembolic biomarkers, taken within 14 days from symptom onset, were compared between patients diagnosed with AF (n = 74) during monitoring and those without AF (n = 185). Receiver operating characteristic curves were created. Biomarkers reaching area under the receiver operating characteristic curve ≥ 0.7 were dichotomized by finding optimal cut-off values and were used in logistic regression establishing their predictive value for increased risk of AF in unadjusted and adjusted models. RESULTS: B-type natriuretic peptide (BNP), N-terminal pro-brain natriuretic peptide (NT-proBNP), creatine kinase, D-dimer and high-sensitivity cardiac troponin I and T were significantly higher in the AF than non-AF group. BNP and NT-proBNP reached the predefined area under the curve level, 0.755 and 0.725 respectively. Optimal cut-off values were 33.5 ng/l for BNP and 87 ng/l for NT-proBNP. Regression analysis showed that NT-proBNP was a predictor of AF in both unadjusted (odds ratio 7.72, 95% confidence interval 3.16-18.87) and age- and sex-adjusted models (odds ratio 4.82, 95% confidence interval 1.79-12.96). CONCLUSION: Several clinically established biomarkers were associated with AF. NT-proBNP performed best as AF predictor and could be used for selecting patients for long-term monitoring with ICMs.


Asunto(s)
Fibrilación Atrial , Ataque Isquémico Transitorio , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Fibrilación Atrial/complicaciones , Fibrilación Atrial/diagnóstico , Accidente Cerebrovascular/complicaciones , Biomarcadores , Péptido Natriurético Encefálico , Ataque Isquémico Transitorio/complicaciones , Accidente Cerebrovascular Isquémico/complicaciones , Fragmentos de Péptidos
11.
PLoS One ; 18(1): e0279697, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36701322

RESUMEN

Quantitative assessment of motor function is increasingly applied in fall risk stratification, diagnosis, and disease monitoring of neuro-geriatric disorders of balance and gait. Its broad application, however, demands for low-cost and easy to use solutions that facilitate high-quality assessment outside laboratory settings. In this study, we validated in 30 healthy adults (12 female, age: 32.5 [22 - 62] years) the performance and accuracy of the latest generation of the Microsoft RGB-D camera, i.e., Azure Kinect (AK), in tracking body motion and providing estimates of clinical measures that characterise static posture, postural transitions, and locomotor function. The accuracy and repeatability of AK recordings was validated with a clinical reference standard multi-camera motion capture system (Qualisys) and compared to its predecessor Kinect version 2 (K2). Motion signal quality was evaluated by Pearson's correlation and signal-to-noise ratios while the accuracy of estimated clinical parameters was described by absolute and relative agreement based on intraclass correlation coefficients. The accuracy of AK-based body motion signals was moderate to excellent (RMSE 89 to 20 mm) and depended on the dimension of motion (highest for anterior-posterior dimension), the body region (highest for wrists and elbows, lowest for ankles and feet), and the specific motor task (highest for stand up and sit down, lowest for quiet standing). Most derived clinical parameters showed good to excellent accuracy (r .84 to .99) and repeatability (ICC(1,1) .55 to .94). The overall performance and limitations of body tracking by AK were comparable to its predecessor K2 in a cohort of young healthy adults. The observed accuracy and repeatability of AK-based evaluation of motor function indicate the potential for a broad application of high-quality and long-term monitoring of balance and gait in different non-specialised environments such as medical practices, nursing homes or community centres.


Asunto(s)
Articulación del Codo , Programas Informáticos , Adulto , Humanos , Femenino , Anciano , Postura , Movimiento (Física) , Marcha , Fenómenos Biomecánicos , Reproducibilidad de los Resultados
12.
Scand J Pain ; 23(3): 613-619, 2023 07 26.
Artículo en Inglés | MEDLINE | ID: mdl-36566752

RESUMEN

OBJECTIVES: Trauma (i.e., musculoskeletal injury from a blunt or penetrating force) can change the trajectory of a person's life. Patients often experience chronic pain, reduced quality of life, long-term opioid therapy, and psychiatric comorbidities after trauma surgery. This case report presents clinical outcomes of four patients who received postsurgical pain care in a transitional pain service (TPS) that provides long-term coordinated multimodal pain care, opioid tapering plans, and psychiatric care. METHODS: The Personalized Pain Program (PPP) measures prescription opioid use and patient-reported outcomes: pain severity and pain interference (Brief Pain Inventory), pain catastrophizing (Pain Catastrophizing Scale), insomnia severity (Insomnia Severity Index), physical and mental health functioning (SF-12 pre-COVID-19; SF-36 during COVID-19 pandemic) at initial and subsequent clinic visits. RESULTS: All four patients reduced their postsurgical opioid use with concurrent reductions in pain and improved functioning while receiving postoperative care in the PPP (average length of treatment: 2.8 years). Psychiatric co-treatment addressed the onset or exacerbation of mental health comorbidities following trauma. CONCLUSIONS: Long-term multidisciplinary pain care may improve post-trauma recovery and reduce risks of long-term opioid therapy and disability. Prospective studies are needed to evaluate the effectiveness of TPSs for patients undergoing trauma surgery.


Asunto(s)
COVID-19 , Trastornos del Inicio y del Mantenimiento del Sueño , Humanos , Analgésicos Opioides , Calidad de Vida , Pandemias , Dolor Postoperatorio/tratamiento farmacológico , Dolor Postoperatorio/epidemiología
14.
Behav Sci (Basel) ; 14(1)2023 Dec 24.
Artículo en Inglés | MEDLINE | ID: mdl-38247668

RESUMEN

Mental disorders are a major problem among young people. To identify early risk factors of self-injurious thoughts and behaviours (SITB) among young adults with mental health problems, this case-control study drew data from the Clinical Practice Research Datalink (CPRD), a primary care database covering 8% of the UK population. We explored the role of early factors (presenting at 8-14 years old) for suicidal ideation, suicide attempts, and non-suicidal self-injury (NSSI) in young adulthood (age 18-25 years) by performing logistic regressions. Our sample consisted of 219,581 participants, of which 6.51% had at least one SITB in young adulthood. Early risk factors for SITB included early NSSI, suicidal ideation, sexual abuse, behavioural problems, and mood and psychotic symptoms. Frequency of GP visits had a protective effect. Lack of access to mortality data, ethnicity, and socioeconomic status was a limitation of the current study. In conclusion, early symptoms in late childhood/early adolescence can be the start of long-standing problems going into adult life. The training of primary care providers in suicide risk assessment and proper co-ordination with child and adolescent mental health services are crucial for suicide prevention.

15.
J Pers Med ; 14(1)2023 Dec 26.
Artículo en Inglés | MEDLINE | ID: mdl-38248732

RESUMEN

Siloed pain management across the perioperative period increases the risk of chronic opioid use and impedes postoperative recovery. Transitional perioperative pain services (TPSs) are innovative care models that coordinate multidisciplinary perioperative pain management to mitigate risks of chronic postoperative pain and opioid use. The objective of this study was to examine patients' experiences with and quality of recovery after participation in a TPS. Qualitative interviews were conducted with 26 patients from The Johns Hopkins Personalized Pain Program (PPP) an average of 33 months after their first PPP visit. A qualitative content analysis of the interview data showed that participants (1) valued pain expectation setting, individualized care, a trusting patient-physician relationship, and shared decision-making; (2) perceived psychiatric treatment of co-occurring depression, anxiety, and maladaptive behaviors as critical to recovery; and (3) successfully sustained opioid tapers and experienced improved functioning after PPP discharge. Areas for improved patient-centered care included increased patient education, specifically about the program, continuity of care with pain specialists while tapering opioids, and addressing the health determinants that impede access to pain care. The positive patient experiences and sustained clinical benefits for high-risk complex surgical patient support further efforts to implement and adapt similar models of perioperative pain care.

16.
Artículo en Inglés | MEDLINE | ID: mdl-36554871

RESUMEN

BACKGROUND: Instrumental motion analysis constitutes a promising development in the assessment of motor function in clinical populations affected by movement disorders. To foster implementation and facilitate interpretation of respective outcomes, we aimed to establish normative data of healthy subjects for a markerless RGB-Depth camera-based motion analysis system and to illustrate their use. METHODS: We recorded 133 healthy adults (56% female) aged 20 to 60 years with an RGB-Depth camera-based motion analysis system. Forty-three spatiotemporal parameters were extracted from six short, standardized motor tasks-including three gait tasks, stepping in place, standing-up and sitting down, and a postural control task. Associations with confounding factors, height, weight, age, and sex were modelled using a predictive linear regression approach. A z-score normalization approach was provided to improve usability of the data. RESULTS: We reported descriptive statistics for each spatiotemporal parameter (mean, standard deviation, coefficient of variation, quartiles). Robust confounding associations emerged for step length and step width in comfortable speed gait only. Accessible normative data usage was lastly exemplified with recordings from one randomly selected individual with multiple sclerosis. CONCLUSION: We provided normative data for an RGB depth camera-based motion analysis system covering broad aspects of motor capacity.


Asunto(s)
Marcha , Trastornos del Movimiento , Adulto , Humanos , Femenino , Masculino , Movimiento (Física) , Voluntarios Sanos
17.
J Opioid Manag ; 18(5): 421-433, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36226782

RESUMEN

OBJECTIVE: To examine (1) patient perceptions regarding their engagement and the engagement of their families in perioperative pain management, (2) demographic and clinical characteristics associated with perceived patient and family engagement, and (3) the association between perceived patient and family engagement and patient outcomes. DESIGN: A prospective, observational study. SETTING: The Personalized Pain Program (PPP) at the Johns Hopkins Hospital in Baltimore, Maryland. PARTICIPANTS: Patients having more than one visit to the PPP. INTERVENTIONS: n/a. MAIN OUTCOME MEASURES: Since the inception of the PPP, patients were surveyed prior to each clinic visit to assess their pain severity and interference using the Brief Pain Inventory. Starting August 22, 2018, two additional questions were added to the survey to assess patient perceptions of their engagement and the engagement of their families in perioperative pain management. In addition, electronic medical records were reviewed to collect data on daily opioid consumption during the first and last PPP visits presurgery and post-surgery. RESULTS: The final analysis included 511 survey responses from 155 patients. Perceived engagement of the patient in perioperative pain management improved over time (p < .001) and was significantly associated with reduction in prescription opioid consumption after surgery (coef = 12.7, SE = 5.8, p = .031). CONCLUSIONS: Surgical patients and their family members should be actively engaged in perioperative pain management to improve prescription opioid use and the quality and safety of perioperative care.


Asunto(s)
Analgésicos Opioides , Trastornos Relacionados con Opioides , Analgésicos Opioides/efectos adversos , Humanos , Trastornos Relacionados con Opioides/diagnóstico , Trastornos Relacionados con Opioides/tratamiento farmacológico , Trastornos Relacionados con Opioides/epidemiología , Dolor/tratamiento farmacológico , Manejo del Dolor/efectos adversos , Dolor Postoperatorio/diagnóstico , Dolor Postoperatorio/tratamiento farmacológico , Participación del Paciente , Prescripciones , Estudios Prospectivos
18.
Genes (Basel) ; 13(7)2022 06 23.
Artículo en Inglés | MEDLINE | ID: mdl-35885914

RESUMEN

Rapeseed (Brassica napus L.) is an important oil crop and has the potential to serve as a highly productive source of protein. This protein exhibits an excellent amino acid composition and has high nutritional value for humans. Seed protein content (SPC) and seed oil content (SOC) are two complex quantitative and polygenic traits which are negatively correlated and assumed to be controlled by additive and epistatic effects. A reduction in seed glucosinolate (GSL) content is desired as GSLs cause a stringent and bitter taste. The goal here was the identification of genomic intervals relevant for seed GSL content and SPC/SOC. Mapping by sequencing (MBS) revealed 30 and 15 new and known genomic intervals associated with seed GSL content and SPC/SOC, respectively. Within these intervals, we identified known but also so far unknown putatively causal genes and sequence variants. A 4 bp insertion in the MYB28 homolog on C09 shows a significant association with a reduction in seed GSL content. This study provides insights into the genetic architecture and potential mechanisms underlying seed quality traits, which will enhance future breeding approaches in B. napus.


Asunto(s)
Brassica napus , Brassica napus/genética , Brassica napus/metabolismo , Mapeo Cromosómico , Genómica , Humanos , Fitomejoramiento , Semillas/genética , Semillas/metabolismo
19.
JMIR Hum Factors ; 9(2): e26825, 2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-35363150

RESUMEN

BACKGROUND: Instrumented assessment of motor symptoms has emerged as a promising extension to the clinical assessment of several movement disorders. The use of mobile and inexpensive technologies such as some markerless motion capture technologies is especially promising for large-scale application but has not transitioned into clinical routine to date. A crucial step on this path is to implement standardized, clinically applicable tools that identify and control for quality concerns. OBJECTIVE: The main goal of this study comprises the development of a systematic quality control (QC) procedure for data collected with markerless motion capture technology and its experimental implementation to identify specific quality concerns and thereby rate the usability of recordings. METHODS: We developed a post hoc QC pipeline that was evaluated using a large set of short motor task recordings of healthy controls (2010 recordings from 162 subjects) and people with multiple sclerosis (2682 recordings from 187 subjects). For each of these recordings, 2 raters independently applied the pipeline. They provided overall usability decisions and identified technical and performance-related quality concerns, which yielded respective proportions of their occurrence as a main result. RESULTS: The approach developed here has proven user-friendly and applicable on a large scale. Raters' decisions on recording usability were concordant in 71.5%-92.3% of cases, depending on the motor task. Furthermore, 39.6%-85.1% of recordings were concordantly rated as being of satisfactory quality whereas in 5.0%-26.3%, both raters agreed to discard the recording. CONCLUSIONS: We present a QC pipeline that seems feasible and useful for instant quality screening in the clinical setting. Results confirm the need of QC despite using standard test setups, testing protocols, and operator training for the employed system and by extension, for other task-based motor assessment technologies. Results of the QC process can be used to clean existing data sets, optimize quality assurance measures, as well as foster the development of automated QC approaches and therefore improve the overall reliability of kinematic data sets.

20.
Front Plant Sci ; 12: 733762, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34721462

RESUMEN

Flavonol synthase (FLS) is a key enzyme for the formation of flavonols, which are a subclass of the flavonoids. FLS catalyzes the conversion of dihydroflavonols to flavonols. The enzyme belongs to the 2-oxoglutarate-dependent dioxygenases (2-ODD) superfamily. We characterized the FLS gene family of Brassica napus that covers 13 genes, based on the genome sequence of the B. napus cultivar Express 617. The goal was to unravel which BnaFLS genes are relevant for seed flavonol accumulation in the amphidiploid species B. napus. Two BnaFLS1 homeologs were identified and shown to encode bifunctional enzymes. Both exhibit FLS activity as well as flavanone 3-hydroxylase (F3H) activity, which was demonstrated in vivo and in planta. BnaFLS1-1 and -2 are capable of converting flavanones into dihydroflavonols and further into flavonols. Analysis of spatio-temporal transcription patterns revealed similar expression profiles of BnaFLS1 genes. Both are mainly expressed in reproductive organs and co-expressed with the genes encoding early steps of flavonoid biosynthesis. Our results provide novel insights into flavonol biosynthesis in B. napus and contribute information for breeding targets with the aim to modify the flavonol content in rapeseed.

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