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1.
J Pediatr Gastroenterol Nutr ; 77(6): 748-752, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37229767

RESUMO

NOD2/CARD15 was the first susceptibility gene recognized for adult-onset Crohn's (or Crohn) disease (CD). Recessive inheritance of NOD2 polymorphisms has been implicated as a mechanistic driver of pediatric-onset CD. In patients with very early-onset inflammatory bowel disease (VEO-IBD), however, the clinical relevance of NOD2 polymorphisms has not been fully established. Ten VEO-IBD patients with NOD2 polymorphisms ( NOD2 +) were compared to 16 VEO-IBD patients without genetic variants in NOD2 or any other VEO-IBD susceptibility genes ( NOD2 -). The majority of NOD2 + patients exhibited a CD-like phenotype (90%), linear growth impairment (90%), and arthropathy (60%), all of which were significantly more common than in the NOD2 - group ( P = 0.037, P = 0.004, P = 0.026, respectively). We propose that the presence of NOD2 polymorphisms in patients with VEO-IBD might confer a CD-like phenotype, linear growth impairment, and arthropathy. These findings should be validated in larger cohorts and may guide precision medicine for patients with VEO-IBD in the future.


Assuntos
Colite Ulcerativa , Doença de Crohn , Artropatias , Adulto , Criança , Humanos , Doença de Crohn/genética , Colite Ulcerativa/genética , Predisposição Genética para Doença , Proteína Adaptadora de Sinalização NOD2/genética , Idade de Início , Fenótipo , Mutação
4.
Med Health Care Philos ; 18(1): 147-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24927826

RESUMO

As an incapacitated patient is unable to make decisions regarding their care, physicians turn to next-of-kin when appointing a surrogate decision-maker in the absence of an advanced directive. With the increasing complexity of modern families, physicians are facing new ethical dilemmas when choosing the individual to make end-of-life decisions for their patients. Legal definitions and hierarchies are no longer adhering to the purpose of a surrogate-decision maker, which is to maintain a patient's autonomy. Moral criteria for surrogates, which emphasize the importance of making decisions that align with the patient's desires and wishes and negate biological relationships over emotional connections, are becoming much more important. This paper explores a case study in which physicians must appoint a surrogate decision-maker for an incapacitated patient, forced to choose between a biological relationship and a strong emotional connection.


Assuntos
Tomada de Decisões , Família , Amigos , Assistência Terminal/ética , Consentimento do Representante Legal/ética , Emoções , Humanos
5.
ACG Case Rep J ; 8(2): e00538, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33644248

RESUMO

Celiac disease is an immune-mediated process against gluten, resulting in inflammation and villous atrophy of the duodenum. Symptoms of malabsorption characterize the classic presentation; however, abdominal pain, constipation, and nutritional deficiencies can also be seen. We present a case of a 4-year-old boy who was found to have celiac disease after presenting with diarrhea, abdominal pain, weight loss, and new-onset pancytopenia. Symptoms resolved, and laboratory values normalized after the initiation of a gluten-free diet, indicating the bone marrow suppression was due to celiac disease, which needs to be considered when hematologic abnormalities are present, even in the absence of gastrointestinal symptoms.

6.
Am J Manag Care ; 26(12): e377-e379, 2020 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-33315330

RESUMO

Violence against health care workers is an ever-present threat that has been increasing over the past several years. The majority of physicians and nurses report that they have been victims of workplace violence at least once throughout their careers. Such violent attacks negatively affect the delivery, quality, and accessibility of health care. Certain factors such as substance abuse and intense emotions increase an individual's risk of committing an act of workplace violence against a health care worker. Encountering violent individuals has legal implications and can compromise the moral framework of physicians. With action from institution administrations, advocates, leaders, and government, this issue that detrimentally affects health care can be combatted and reduced. By implementing required staff training, increasing security, strengthening the doctor-patient relationship, using medical chaperones, and reforming policy, positive changes can be made to protect health care workers and the health care system.


Assuntos
Relações Médico-Paciente , Violência no Trabalho , Pessoal de Saúde , Humanos , Pandemias , Inquéritos e Questionários , Local de Trabalho
9.
JPGN Rep ; 3(4): e272, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36406468
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