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1.
Aging Cell ; 22(10): e13964, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37594403

RESUMO

Bloom syndrome (BSyn) is an autosomal recessive disorder caused by variants in the BLM gene, which is involved in genome stability. Patients with BSyn present with poor growth, sun sensitivity, mild immunodeficiency, diabetes, and increased risk of cancer, most commonly leukemias. Interestingly, patients with BSyn do not have other signs of premature aging such as early, progressive hair loss and cataracts. We set out to determine epigenetic age in BSyn, which can be a better predictor of health and disease over chronological age. Our results show for the first time that patients with BSyn have evidence of accelerated epigenetic aging across several measures in blood lymphocytes, as compared to carriers. Additionally, homozygous Blm mice exhibit accelerated methylation age in multiple tissues, including brain, blood, kidney, heart, and skin, according to the brain methylation clock. Overall, we find that Bloom syndrome is associated with accelerated epigenetic aging effects in multiple tissues and more generally a strong effect on CpG methylation levels.


Assuntos
Senilidade Prematura , Síndrome de Bloom , Humanos , Animais , Camundongos , Síndrome de Bloom/genética , Síndrome de Bloom/diagnóstico , Epigênese Genética , Envelhecimento/genética , Senilidade Prematura/genética , Metilação , Metilação de DNA/genética
2.
J Surg Res ; 230: 7-12, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30100042

RESUMO

BACKGROUND: With the increasing use of the robotic platform in general surgery, whether 8-mm ports should be closed comes into question. We sought to characterize the incidence of port-site hernias (PSHs) among patients undergoing robotic-assisted general surgery. METHODS: A retrospective chart review of a single institutional database identified patients who underwent robotic-assisted general surgery from July 2010 to December 2016. For each patient, the number, type, location, and size of all ports were collected. Twelve-millimeter port sites were routinely closed, whereas 5-mm and 8-mm port sites were not. PSH was detected on review of documented physical examination and of postoperative cross-sectional imaging, when available, in which case it was defined as a disruption of the fascia with or without eventration of tissue at a site of prior port placement. RESULTS: One hundred and seventy-eight patients underwent robotic-assisted general surgery, with 725 total ports: 433 8-mm working ports, 72 12-mm working ports, 178 12-mm camera ports, and 42 5-mm assistant ports. Ninety-four percent of the patients were men, the mean age was 63 ± 12, body mass index was 29 ± 7 kg/m2, and the median American Society of Anesthesiologists score was 3. Types of cases included 68 rectal (38.2%), 36 colon (20.2%), 25 hepatopancreatobiliary (14.0%), 21 inguinal hernia (11.8%), and 28 "other" (15.7%) operations. At a median follow-up of 193 d, there were three PSHs through 8-mm port sites (0.7%), two PSHs through 12-mm port sites (0.8%), and no PSH through 5-mm port sites. Two of the three 8-mm PSHs occurred in the early postoperative period and required emergent repair due to small bowel incarceration. CONCLUSIONS: PSHs through 8-mm robotic port sites occur infrequently but can cause significant morbidity. Further investigation with longer follow-up is warranted to better understand the true incidence of robotic PSH.


Assuntos
Hérnia Abdominal/epidemiologia , Laparoscopia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Procedimentos Cirúrgicos Robóticos/efeitos adversos , Idoso , Fáscia/diagnóstico por imagem , Feminino , Hérnia Abdominal/diagnóstico por imagem , Hérnia Abdominal/etiologia , Humanos , Incidência , Laparoscopia/métodos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/métodos
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