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1.
J Vet Intern Med ; 2024 Jul 13.
Artigo em Inglês | MEDLINE | ID: mdl-39001675

RESUMO

BACKGROUND: Lymphoma has been implicated as a possible cause of proteinuria in dogs. However, information about the potential importance of proteinuria in dogs with lymphoma is limited. HYPOTHESIS: To determine if the presence of proteinuria at diagnosis was associated with median survival times in dogs with lymphoma and if lymphoma stage (I-V) or type (B vs T) were associated with the presence of proteinuria. ANIMALS: Eighty-six client-owned dogs with a new diagnosis of lymphoma between 2008 and 2020. METHODS: This was a retrospective cross-sectional study with dogs divided into proteinuric or nonproteinuric groups based on dipstick urine protein (protein ≥30 mg/dL classified as proteinuric) or a ratio of dipstick protein to urine specific gravity (ratio ≥1.5 classified as proteinuric). Dogs were excluded for: (1) treatment within 2 months with glucocorticoid, anti-neoplastic, or anti-proteinuric therapies, (2) diagnosed hypercortisolism or renal lymphoma, (3) active urine sediment, or (4) urine pH >8. Survival analysis utilized a Kaplan-Meier estimator and log-rank testing. RESULTS: There was a significant difference in median survival between proteinuric and nonproteinuric dogs classified by urine dipstick (245 days [91, 399] vs 335 days [214, 456]; P = .03) or UP : USG (237 days [158, 306] vs 304 days [173, 434]; P = .03). No difference in prevalence of proteinuria was identified between stages (I-V) or types (B and T). CONCLUSIONS AND CLINICAL IMPORTANCE: Proteinuria appears to be negatively associated with survival time in dogs newly diagnosed with lymphoma.

2.
J Vet Intern Med ; 2024 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-38761024

RESUMO

OBJECTIVE: Describe presenting signs, diagnostic findings, and magnet-assisted endoscopic removal method of ferromagnetic gastric foreign bodies (FBs) in dogs. CLINICAL PRESENTATION: Four dogs presented with ingestion of sharp metallic FBs. The presence of gastric FBs was confirmed by abdominal radiography. RESULTS: In 3 cases, initial attempts at endoscopic removal were unsuccessful because of ingesta and fluid in the stomach. A magnet contained within a Roth net was introduced endoscopically. Magnet and attached objects were successfully removed from the stomach. In the fourth case, removal with a magnet was judged to be the most expedient method of removal because multiple metallic objects were present. CLINICAL RELEVANCE: An endoscopic technique was used for the removal of difficult-to-visualize or multiple metallic FBs. The use of this technique allows the removal of ferromagnetic gastric FBs without surgery or risk of complications associated with the passage of sharp material through the gastrointestinal (GI) tract.

3.
Vet Clin Pathol ; 53(2): 209-212, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38797715

RESUMO

A 13-year-old male domestic short-hair cat presented for evaluation of labored breathing, hyporexia, and lethargy. Pertinent initial diagnostics yielded leukocytosis, characterized by neutrophilia and monocytosis. Numerous small, round, magenta granules were observed within all neutrophils in Wright-Giemsa-stained blood films on the day of presentation and the day thereafter. No other neutrophil morphologic abnormalities were present, making cytoplasmic toxicity highly unlikely. Hyperadrenocorticism was diagnosed based on the lack of suppression in a low-dose dexamethasone suppression test, and without other diagnostics, the cat was discharged on trilostane therapy. Neutrophil granules did not stain with Alcian blue pH 1.0, periodic acid-Schiff (PAS), PAS and Alcian blue pH 2.5, and toluidine blue. Electron microscopy identified no differences in the morphology of the secretory granules or other neutrophil features. Metabolic screening tests of the cat's urine did not identify a genetic metabolic disorder. However, serum α- and ß -hexosaminidase (HexA and HexB) activities were 4.3% and 0% of normal controls, respectively, which is supportive of GM2-gangliosidosis, that is, Sandhoff disorder. However, the historical, clinical, and electron microscopy findings did not provide evidence to confirm this genetic defect. To the author's knowledge, this is the first case of magenta-staining granules within neutrophils in a breed other than a Birman, Siamese, or Himalayan.


Assuntos
Doenças do Gato , Neutrófilos , Animais , Gatos , Masculino , Neutrófilos/patologia , Doenças do Gato/patologia , Doenças do Gato/diagnóstico , Doenças do Gato/sangue , Grânulos Citoplasmáticos/ultraestrutura , Grânulos Citoplasmáticos/patologia
4.
Am J Med Genet A ; 191(9): 2402-2410, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37387332

RESUMO

Most human proteins are N-terminally acetylated by N-terminal acetyltransferases (NATs), which play crucial roles in many cellular functions. The NatC complex, comprising the catalytic subunit NAA30 and the auxiliary subunits NAA35 and NAA38, is estimated to acetylate up to 20% of the human proteome in a co-translational manner. Several NAT enzymes have been linked to rare genetic diseases, causing developmental delay, intellectual disability, and heart disease. Here, we report a de novo heterozygous NAA30 nonsense variant c.244C>T (p.Q82*) (NM_001011713.2), which was identified by whole exome sequencing in a 5-year-old boy presenting with global development delay, autism spectrum disorder, hypotonia, tracheal cleft, and recurrent respiratory infections. Biochemical studies were performed to assess the functional impact of the premature stop codon on NAA30's catalytic activity. We find that NAA30-Q82* completely disrupts the N-terminal acetyltransferase activity toward a classical NatC substrate using an in vitro acetylation assay. This finding corresponds with structural modeling showing that the truncated NAA30 variant lacks the entire GNAT domain, which is required for catalytic activity. This study suggests that defective NatC-mediated N-terminal acetylation can cause disease, thus expanding the spectrum of NAT variants linked to genetic disease.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Masculino , Humanos , Pré-Escolar , Acetiltransferases N-Terminal/metabolismo , Sequência de Aminoácidos , Proteômica , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Acetiltransferase N-Terminal C/genética , Acetiltransferase N-Terminal C/metabolismo
5.
Int J Ment Health Nurs ; 31(5): 1090-1108, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35365947

RESUMO

Mental health inpatient units are complex and challenging environments for care and treatment. Two imperatives in these settings are to minimize restrictive practices such as seclusion and restraint and to provide recovery-oriented care. Safewards is a model and a set of ten interventions aiming to improve safety by understanding the relationship between conflict and containment as a means of reducing restrictive practices. To date, the research into Safewards has largely focused on its impact on measures of restrictive practices with limited exploration of consumer perspectives. There is a need to review the current knowledge and understanding around Safewards and its impact on consumer safety. This paper describes a mixed-methods integrative literature review of Safewards within inpatient and forensic mental health units. The aim of this review was to synthesize the current knowledge and understanding about Safewards in terms of its implementation, acceptability, effectiveness and how it meets the needs of consumers. A systematic database search using Medline, CINAHL, Embase and PsychInfo databases was followed by screening and data extraction of findings from 19 articles. The Mixed Methods Appraisal Tool (MMAT) was used to assess the quality of empirical articles, and the Johanna Brigg's Institute (JBI's) Narrative, Opinion, Text-Assessment and Review Instrument (NOTARI) was used to undertake a critical appraisal of discussion articles. A constant comparative approach was taken to analysing the data and six key categories were identified: training, implementation strategy, staff acceptability, fidelity, effectiveness and consumer perspectives. The success of implementing Safewards was variously determined by a measured reduction of restrictive practices and conflict events, high fidelity and staff acceptability. The results highlighted that Safewards can be effective in reducing containment and conflict within inpatient mental health and forensic mental health units, although this outcome varied across the literature. This review also revealed the limitations of fidelity measures and the importance of involving staff in the implementation. A major gap in the literature to date is the lack of consumer perspectives on the Safewards model, with only two papers to date focusing on the consumers point of view. This is an important area that requires more research to align the Safewards model with the consumer experience and improved recovery orientation.


Assuntos
Pacientes Internados , Unidade Hospitalar de Psiquiatria , Humanos , Saúde Mental , Restrição Física
6.
J Community Genet ; 12(3): 479-484, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33619689

RESUMO

Family physicians (FPs) will encounter genetic concerns within community practice. To determine how FPs compare to genetic counselors (GCs), a cross-sectional survey was distributed to Canadian FPs and GCs in 2019. The survey assessed risk analysis, counseling, and management of genetic information. FPs performed less well than GCs on each survey question and scenario (p < 0.05). Average overall survey scores for FPs were lower than GCs (62% vs. 93%, p < 0.001). Additional genetic training for FPs may help avoid potential harm.

7.
Paediatr Child Health ; 23(6): e117-e125, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30455582

RESUMO

INTRODUCTION: Enzyme replacement therapies (ERTs) are expensive drugs that can be used to treat certain inherited diseases. ERTs are not universally covered across provinces and costs are beyond the means of most patients. Media reports are commonly used to lobby for provincial ERT funding for specific patients. As physicians may be confronted with these media reports by patients, this study explored medical reporting regarding ERTs in print media. METHODS: Canadian Newsstream database was searched for articles about three ERTs-Elaprase™, Naglazyme™ and Vimizim™. Articles meeting inclusion criteria were reviewed for data regarding efficacy and adverse events, mention of role of health care professionals and medical information sources. Thematic analysis explored how efficacy was described within the articles. Data from product monographs and recent meta-analyses served as a basis for comparison. RESULTS: Of 57 articles retained for the study, 9% mentioned clinical trial data regarding drug efficacy; 7% mentioned adverse events. Only 23% of opinions about medical necessity or efficacy of the drug were from a physician. The majority were those of politicians. Information describing the condition was accurate in 90% of cases, although usually incompletely. DISCUSSION: Incomplete or inaccurate reporting about efficacy and safety may influence families that appear to be candidates for ERT. Poor reporting of medical information may also influence the social pressures placed on the government and affect funding approval for these drugs. Physicians should be aware that their patients may be exposed to misleading information.

8.
Am J Orthopsychiatry ; 86(6): 610-619, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27854452

RESUMO

Anecdotal reports and first-person accounts by psychologists, psychiatrists, social workers, and nurses with lived experience of mental illness ("prosumers") indicate that they can be effective in these roles, but little is known about the extent, nature, or contributions of this group. Competently functioning prosumers are in a unique position to increase hope for recovery and reduce stigma and discrimination across the mental health field, to the ultimate benefit of consumers. The study surveyed a convenience sample of 77 prosumers working for the Veterans Health Administration (VHA). We present descriptive productivity metrics such as publications, presentations, funding, initiating and leading programs, training and supervising other clinicians, and performing community work outside VHA. Very few have asked for accommodations at work. Two thirds have not disclosed their lived experience to any of their patients. On average, respondents have disclosed to only 16% of their colleagues, and about one third have not disclosed to any of their colleagues. Qualitative data show that participants see their lived experience as an asset, whether or not they disclose it. They advocate being conscientious about self-care to remain work-ready. Although the group sees many advantages to being open about their lived experience, and many are proud to stand up and be counted, others cite reasons to be cautious about disclosure. It is hoped that this survey will provide inspiration and encouragement to mental health workers with lived experience and that it will help foster a welcoming and inclusive work environment for this capable group of colleagues. (PsycINFO Database Record


Assuntos
Pessoal de Saúde/psicologia , Transtornos Mentais/terapia , Competência Profissional/estatística & dados numéricos , Revelação/tendências , Humanos , Liderança , Transtornos Mentais/psicologia , Serviços de Saúde Mental/estatística & dados numéricos , Estigma Social , Inquéritos e Questionários , Estados Unidos , United States Department of Veterans Affairs
9.
J Genet Couns ; 24(1): 46-57, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24993688

RESUMO

Multiple sclerosis (MS) affects up to 1/500 Canadians. The University of British Columbia MS Clinic (UBC Clinic) is the only MS clinic in Canada (and likely internationally) that routinely offers genetic counseling to patients and their families. A typical session includes the collection of family history and demographic data, discussion of the inheritance of MS, interpretation of family-specific recurrence risks and psychosocial counseling. The aims of this study were to explore patients': 1) expectations of the genetic counseling session; 2) understanding of the etiology of MS (both pre and post-session); and 3) post-session perceptions of genetic counseling. A two-part questionnaire to assess genetic counseling services was distributed before and after sessions to all consenting patients seen during the period October 1, 2008 to February 28, 2009 inclusive. Sixty-two completed questionnaires were analysed. Genetic counseling was found to significantly increase the number of individuals who were able to correctly identify the etiology of MS (p < 0.001). Patient satisfaction with genetic counseling was high, with an average satisfaction score of 32.4/35 (92.6 %). Of those who provided comments (n = 42/60) regarding the usefulness of the genetic counseling session, 95.2 % reported it useful (n = 40/42). Findings suggest that genetic counseling is effective in increasing patients' knowledge of the etiology of MS and is viewed by patients as a useful service. Based on the high level of positive feedback regarding genetic counseling by the study sample, this study suggests that the services provided by genetic counselors may be beneficial for patients with MS seen in other centers.


Assuntos
Aconselhamento Genético/métodos , Esclerose Múltipla/terapia , Educação de Pacientes como Assunto/métodos , Satisfação do Paciente , Adulto , Instituições de Assistência Ambulatorial , Colúmbia Britânica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/psicologia , Relações Profissional-Paciente , Inquéritos e Questionários
11.
Biol Reprod ; 85(5): 916-23, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21753194

RESUMO

Prostaglandin E2 (PGE2) mediates many effects of the midcycle luteinizing hormone (LH) surge within the periovulatory follicle. Differential expression of the four PGE2 (EP) receptors may contribute to the specialized functions of each granulosa cell subpopulation. To determine if EP receptors are differentially expressed in granulosa cells, monkeys received gonadotropins to stimulate ovarian follicular development. Periovulatory events were initiated with human chorionic gonadotropin (hCG); granulosa cells and whole ovaries were collected before (0 h) and after (24-36 h) hCG to span the 40-h primate periovulatory interval. EP receptor mRNA and protein levels were quantified in granulosa cell subpopulations. Cumulus cells expressed higher levels of EP2 and EP3 mRNA compared with mural cells 36 h after hCG. Cumulus cell EP2 and EP3 protein levels also increased between 0 and 36 h after hCG. Overall, mural granulosa cells expressed low levels of EP1 protein at 0 h and higher levels 24-36 h after hCG. However, EP1 protein levels were higher in granulosa cells away from the follicle apex compared with apex cells 36 h after hCG. Higher levels of PAI-1 protein were measured in nonapex cells, consistent with a previous study showing EP1-stimulated PAI-1 protein expression in monkey granulosa cells. EP4 protein levels were low in all subpopulations. In summary, cumulus cells likely respond to PGE2 via EP2 and EP3, whereas PGE2 controls rupture of a specific region of the follicle via EP1. Therefore, differential expression of EP receptors may permit each granulosa cell subpopulation to generate a unique response to PGE2 during the process of ovulation.


Assuntos
Células da Granulosa/metabolismo , Macaca fascicularis/metabolismo , Folículo Ovariano/metabolismo , Ovulação/fisiologia , Receptores de Prostaglandina E/metabolismo , Animais , Células do Cúmulo/citologia , Células do Cúmulo/metabolismo , Feminino , Folículo Ovariano/citologia , Inibidor 1 de Ativador de Plasminogênio/metabolismo , RNA Mensageiro/metabolismo , Ativador de Plasminogênio Tecidual/metabolismo
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