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1.
bioRxiv ; 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38405940

RESUMO

Although DNA methylation primarily represses transposable elements (TEs) in plants, it also represses select endosperm and pollen genes. These genes, or their cis-regulatory elements, are methylated in plant body tissues but are demethylated by DNA glycosylases (DNGs) in endosperm and pollen, enabling their transcription. Activity of either one of two DNGs, MDR1 or DNG102, is essential for pollen viability in maize. Using single-pollen mRNA sequencing on pollen segregating mutations in both genes, we identified 58 candidate DNG target genes, whose expression is strongly decreased in double mutant pollen (124-fold decrease on average). These genes account for 11.1% of the wild-type pollen polyadenylated transcriptome, but they are silent or barely detectable in the plant body. They are unusual in their tendency to lack introns but even more so in their having TE-like methylation in their coding DNA sequence. Moreover, they are strongly enriched for predicted functions in cell wall modification. While some may support development of the pollen grain cell wall, expansins and pectinases in this set of genes suggest a function in cell wall loosening to support the rapid tip growth characteristic of pollen tubes as they carry the sperm cells through maternal apoplast and extracellular matrix of the pistil. These results suggest a critical role for DNA methylation and demethylation in regulating maize genes with potential for extremely high expression in pollen but constitutive silencing elsewhere.

2.
Cureus ; 15(9): e44896, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37814773

RESUMO

Drug-induced parkinsonism (DIP) is a condition characterized by the development of parkinsonian symptoms as a result of medication use. It is often misdiagnosed and can be challenging to differentiate from Parkinson's disease (PD). In this case presentation, we describe the clinical course of a 64-year-old male who presented with parkinsonian symptoms while using atypical antipsychotics, which was originally misdiagnosed as PD. The case highlights the importance of recognizing the potential iatrogenic effects of medications with antidopaminergic properties, such as antipsychotics and antiepileptic drugs, which are common culprits in causing DIP. We discuss DIP management, long-term impacts, and differentiating DIP from PD through clinical findings and imaging, emphasizing the utility of the (123)I-ioflupane single-photon emission computerized tomography (SPECT) scan in aiding diagnosis. This case serves as a reminder to healthcare providers to remain vigilant in monitoring patients for adverse effects, polypharmacy, and harmful medication interactions.

3.
Anaesth Intensive Care ; 49(6): 448-454, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34772298

RESUMO

Clinicians assessing cardiac risk as part of a comprehensive consultation before surgery can use an expanding set of tools, including predictive risk calculators, cardiac stress tests and measuring serum natriuretic peptides. The optimal assessment strategy is unclear, with conflicting international guidelines. We investigated the prognostic accuracy of the Revised Cardiac Risk Index for risk stratification and cardiac outcomes in patients undergoing elective non-cardiac surgery in a contemporary Australian cohort.We audited the records for 1465 consecutive patients 45 years and older presenting to the perioperative clinic for elective non-cardiac surgery in our tertiary hospital. We calculated individual Revised Cardiac Risk Index scores and documented any use of preoperative cardiac tests. The primary outcome was any major adverse cardiac events within 30 days of surgery, including myocardial infarction, pulmonary oedema, complete heart block or cardiac death.Myocardial perfusion imaging was the most common preoperative stress test (4.2%, 61/1465). There was no routine investigation of natriuretic peptide levels for cardiac risk assessment before surgery. Major adverse cardiac events occurred in 1.3% (18/1366) of patients who had surgery. The Revised Cardiac Risk Index score had modest prognostic accuracy for major cardiac complications, area under receiver operator curve 0.73, 95% confidence interval 0.60 to 0.86. Stratifying major adverse cardiac events by the Revised Cardiac Risk Index scores 0, 1, 2 and 3 or greater corresponded to event rates of 0.6% (4/683), 0.8% (4/488), 4.1% (6/145) and 8.0% (4/50), respectively.The Revised Cardiac Risk Index had only modest predictive value in our single-centre experience. Patients with a revised cardiac risk index score of 2 or more had an elevated risk of early cardiac complications after elective non-cardiac surgery.


Assuntos
Complicações Pós-Operatórias , Austrália/epidemiologia , Humanos , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Centros de Atenção Terciária
4.
Front Plant Sci ; 12: 707839, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34504508

RESUMO

Numerous climate change threats will necessitate a shift toward more sustainable agricultural practices during the 21st century. Conversion of annual crops to perennials that are capable of regrowing over multiple yearly growth cycles could help to facilitate this transition. Perennials can capture greater amounts of carbon and access more water and soil nutrients compared to annuals. In principle it should be possible to identify genes that confer perenniality from wild relatives and transfer them into existing breeding lines to create novel perennial crops. Two major loci controlling perennial regrowth in the maize relative Zea diploperennis were previously mapped to chromosome 2 (reg1) and chromosome 7 (reg2). Here we extend this work by mapping perennial regrowth in segregating populations involving Z. diploperennis and the maize inbreds P39 and Hp301 using QTL-seq and traditional QTL mapping approaches. The results confirmed the existence of a major perennial regrowth QTL on chromosome 2 (reg1). Although we did not observe the reg2 QTL in these populations, we discovered a third QTL on chromosome 8 which we named regrowth3 (reg3). The reg3 locus exerts its strongest effect late in the regrowth cycle. Neither reg1 nor reg3 overlapped with tiller number QTL scored in the same population, suggesting specific roles in the perennial phenotype. Our data, along with prior work, indicate that perennial regrowth in maize is conferred by relatively few major QTL.

5.
J Child Adolesc Psychiatr Nurs ; 34(2): 133-138, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33386643

RESUMO

PURPOSE: This case highlights the importance of nursing-directed interprofessional treatment and inpatient unit genetic testing to identify genetic syndromes that may potentiate psychiatric conditions. SOURCES USED: A case study of a 10-year-old Caucasian male with a history of a congenital heart defect, hand malformation, and low academic functioning who was admitted to the child inpatient psychiatric unit for eloping from school, aggression, and possible psychotic symptoms. Data were collected using patient medical records and interprofessional evaluation from nursing, psychiatry, and occupational therapy. RESULTS: The patient was treated with risperidone to manage psychotic symptoms. Dietary, occupational therapy, and scholastic plans were also implemented. After discharge, results of genetic microarray analysis revealed a Type 1 16p11.2 deletion. CONCLUSION: The role of nursing, interprofessional collaboration, and access to consultation teams play a crucial role in patient care for early diagnosis and treatment. Inpatient genetic testing has the potential to quickly identify and diagnose previously unidentified symptom clusters, leading to early intervention, closer monitoring, and improved patient outcomes.


Assuntos
Pacientes Internados , Transtornos Psicóticos , Transtorno Autístico , Criança , Deleção Cromossômica , Transtornos Cromossômicos , Cromossomos Humanos Par 16 , Testes Genéticos , Hospitalização , Humanos , Deficiência Intelectual , Masculino
6.
IDCases ; 23: e01050, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33511033

RESUMO

Legionella longbeachae pneumonia is much less common than Legionella pneumophila pneumonia in most of the world and may evade timely diagnosis in settings that rely primarily on urine antigen testing, which detects Legionella pnuemophila serogroup 1 only. It is, however, widely recognized in Australia and New Zealand, where it is endemic and associated with exposure to compost and potting soils, rather than contaminated water systems as seen with L. pneumophila. L. longbeachae can cause a similar spectrum and severity of illness as L. pneumophila. Here we present a case of a 47-year-old man with L. longbeacheae necrotizing pneumonia following exposure to possibly contaminated soil from a wastewater treatment facility. Initial presentation included cough, chest pain, and dyspnea, and progressed to hypoxic respiratory failure, tension pneumothorax, and cardiac arrest. L. pneumophila urine antigen was negative, but bronchioalveolar lavage samples grew L. longbeachae on buffered charcoal yeast extract agar. A review of cases reported in the literature in non-endemic regions over a 20-year period identified 38 cases in Europe, 33 in Asia, and 8 in North America. Average age was 65, 65 % were male, and 35 % had potentially relevant environmental exposures. L. longbeachae should be considered in cases of severe community acquired pneumonia, particularly following a consistent environmental exposure or if initial testing for other pathogens is unrevealing. A thorough exposure history including questions about contact with potting soil or compost, and utilization of specialized agar for culture can both be key in identifying this pathogen.

7.
Vaccine ; 38(47): 7455-7457, 2020 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-33067034

RESUMO

Patients with inflammatory bowel disease, especially those on immunosuppressive therapy, are at higher risk of acquiring infectious diseases (Reich et al., 2016). For this reason, immunizations are routinely recommended in comprehensive inflammatory bowel disease care. SHINGRIX, a non-live recombinant herpes zoster vaccine, was approved by the Food and Drug Administration in 2017. Adults aged 50 and over are recommended to receive two doses of SHINGRIX. Unlike ZOSTAVAX® which is a live zoster vaccine that has been in use since 2006, SHINGRIX is safe for those on immunosuppression (Reich et al., 2016). The offside effects of SHINGRIX include injection-site erythema, tenderness, fatigue, and gastrointestinal upset. To our knowledge, blistering autoimmune skin disorders following SHINGRIX administration have not been reported. Here we discuss a case of a 74-year-old female patient with a history of ulcerative proctosigmoiditis on mesalamine who presented with a blistering skin disease after each SHINGRIX vaccination.


Assuntos
Colite Ulcerativa , Vacina contra Herpes Zoster , Herpes Zoster , Idoso , Feminino , Herpes Zoster/prevenção & controle , Vacina contra Herpes Zoster/efeitos adversos , Humanos , Pessoa de Meia-Idade , Vacinação/efeitos adversos
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