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1.
Semin Pediatr Surg ; 32(3): 151313, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37276781

RESUMO

Unfortunately, we are all too familiar with the statement: "Necrotizing enterocolitis remains the leading cause of gastrointestinal surgical emergency in preterm neonates". It's been five decades since the first animal models of necrotizing enterocolitis (NEC) were described. There remains much investigative work to be done on identifying various aspects of NEC, ranging from the underlying mechanisms to treatment modalities. Experimental NEC is mainly focused on a rat, mouse, and piglet models. Our aim is to not only highlight the pros and cons of these three main models, but to also present some of the less-used animal models that have contributed to the body of knowledge about NEC. Choosing an appropriate model is essential to conducting effective research and answering the questions asked. As such, this paper reviews some of the variations that come with each model.


Assuntos
Enterocolite Necrosante , Animais , Camundongos , Ratos , Modelos Animais de Doenças , Enterocolite Necrosante/diagnóstico , Enterocolite Necrosante/etiologia , Enterocolite Necrosante/terapia , Suínos
2.
Am J Case Rep ; 24: e938248, 2023 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-36959724

RESUMO

BACKGROUND Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic condition caused by an X-linked mutation of the OCRL1 gene, with an estimated prevalence in the general population of approximately 1 in 500 000. It is a multisystem disorder most commonly affecting the eyes, central nervous system, and kidneys. These commonly manifest as congenital cataracts, intellectual disability, and proximal renal dysfunction (Fanconi-type). Epidermal lesions are an uncommon manifestation of this condition, and the association is not completely understood. CASE REPORT Here we present a case of a 9-year-old boy with Lowe syndrome who presented with multiple cystic masses found in the perianal region. An excision was then performed to remove the masses and found that the lesions were epidermal cysts, which are infrequently found in Lowe syndrome. After excision, the patient recovered uneventfully without complications. CONCLUSIONS While epidermal cysts are an uncommon manifestation that have been documented, our case remains unique given the location and associated symptoms of the lesions. At presentation, the constellation of pain and perianal masses was concerning for a malignant etiology. However, after diagnostic imaging was performed, these lesions were found to be epidermal cysts, an infrequent manifestation of Lowe syndrome. Few previous case reports described cystic lesions in association with Lowe syndrome, and none, to our knowledge, have described multiple symptomatic perianal lesions. This case is important to consider because epidermal cystic lesions can be found with this presentation and should be considered on differential diagnoses for dermatologic findings in Lowe syndrome patients.


Assuntos
Cisto Epidérmico , Deficiência Intelectual , Síndrome Oculocerebrorrenal , Síndrome WAGR , Masculino , Humanos , Criança , Síndrome Oculocerebrorrenal/complicações , Síndrome Oculocerebrorrenal/diagnóstico , Síndrome Oculocerebrorrenal/genética , Cisto Epidérmico/complicações , Cisto Epidérmico/diagnóstico , Cisto Epidérmico/cirurgia , Mutação , Deficiência Intelectual/complicações , Síndrome WAGR/complicações
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