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1.
BMJ Case Rep ; 14(2)2021 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-33563692

RESUMO

An 81-year-old woman, diabetic and hypertensive, presented with nausea and intermittent vomiting. She had dysphagia and loss of appetite for over 6 weeks and significant weight loss over 3 weeks and was admitted in general surgery unit on emergency basis. Investigations revealed dilated stomach and a stone in first part of duodenum, with probable site of obstruction at level of first part of duodenum, secondary to a cholecystoduodenal fistula. With a preoperative diagnosis of Bouveret's syndrome, she underwent laparotomy and subtotal cholecystectomy. Postoperative recovery was delayed due to gastroparesis and delayed gastric emptying which resolved with conservative management. Successful management of this case required a multidisciplinary team approach. Early diagnosis was the key to management. Mode of treatment and management of Bouveret's syndrome should be tailored to suit patient's age, comorbidities and performance status.


Assuntos
Cálculos Biliares/complicações , Obstrução da Saída Gástrica/etiologia , Obstrução da Saída Gástrica/cirurgia , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Colecistectomia , Diagnóstico Diferencial , Diagnóstico Precoce , Feminino , Cálculos Biliares/diagnóstico por imagem , Obstrução da Saída Gástrica/diagnóstico por imagem , Humanos , Laparotomia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/terapia , Síndrome
2.
Genesis ; 59(1-2): e23394, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32918369

RESUMO

The chromodomain family member chromodomain 1 (CHD1) has been shown to have numerous critical molecular functions including transcriptional regulation, splicing, and DNA repair. Complete loss of function of this gene is not compatible with life. On the other hand, missense and copy number variants of CHD1 can result in intellectual disabilities and craniofacial malformations in human patients including cleft palate and Pilarowski-Bjornsson Syndrome. We have used the aquatic developmental model organism Xenopus laevis, to determine a specific role for Chd1 in such cranioafcial disorders. Protein and gene knockdown techniques in Xenopus, including antisense oligos and mosaic Crispr/Cas9-mediated mutagenesis, recapitulated the craniofacial defects observed in humans. Further analysis indicated that embryos deficient in Chd1 had defects in cranial neural crest development and jaw cartilage morphology. Additionally, flow cytometry and immunohistochemistry revealed that decreased Chd1 resulted in increased in apoptosis in the developing head. Together, these experiments demonstrate that Chd1 is critical for fundamental processes and cell survival in craniofacial development. We also presented evidence that Chd1 is regulated by retinoic acid signaling during craniofacial development. Expression levels of chd1 mRNA, specifically in the head, were increased by RAR agonist exposure and decreased upon antagonist treatment. Subphenotypic levels of an RAR antagonist and Chd1 morpholinos synergized to result in orofacial defects. Further, RAR DNA binding sequences (RAREs) were detected in chd1 regulatory regions by bioinformatic analysis. In summary, by combining human genetics and experiments in an aquatic model we now have a better understanding of the role of CHD1 in craniofacial disorders.


Assuntos
Anormalidades Craniofaciais/genética , DNA Helicases/genética , Proteínas de Xenopus/genética , Animais , Apoptose , Cartilagem/embriologia , Cartilagem/metabolismo , DNA Helicases/metabolismo , Arcada Osseodentária/embriologia , Crista Neural/embriologia , Crista Neural/metabolismo , Proteínas de Xenopus/metabolismo , Xenopus laevis
3.
Genome Announc ; 6(19)2018 05 10.
Artigo em Inglês | MEDLINE | ID: mdl-29748396

RESUMO

We report here the genome sequences of two novel Bacillus cereus group-infecting bacteriophages, Janet and OTooleKemple52. These bacteriophages are double-stranded DNA-containing Myoviridae isolated from soil samples. While their genomes share a high degree of sequence identity with one another, their host preferences are unique.

4.
J Mol Neurosci ; 52(4): 497-506, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24352713

RESUMO

The electroencephalogram (EEG) records the electrical activity of the brain and enables effects of anaesthetic drugs on brain functioning to be monitored. Identification of genes contributing to EEG variability during anaesthesia is important to the clinical application of anaesthesia monitoring and may provide an avenue to identify molecular mechanisms underlying the generation and regulation of brain oscillations. Central immune signalling can impact neuronal activity in the brain and accumulating evidence suggests an important role for cytokines as neuronal modulators. We tested 21 single-nucleotide polymorphisms (SNPs) in immune-related genes for associations with three anaesthesia-induced EEG patterns; spindle amplitude, delta power and alpha power, during general anaesthesia with desflurane in 111 patients undergoing general, gynaecological or orthopaedic surgery. Wide inter-patient variability was observed for all EEG variables. MYD88 rs6853 (p = 6.7 × 10(-4)) and IL-1ß rs1143627 in conjunction with rs6853 (p = 1.5 × 10(-3)) were associated with spindle amplitude, and IL-10 rs1800896 was associated with delta power (p = 1.3 × 10(-2)) suggesting involvement of cytokine signalling in modulation of EEG patterns during desflurane anaesthesia. BDNF rs6265 was associated with alpha power (p = 3.9 × 10(-3)), suggesting differences in neuronal plasticity might also influence EEG patterns during desflurane anaesthesia. This is the first study we are aware of that has investigated genetic polymorphisms that may influence the EEG during general anaesthesia.


Assuntos
Anestesia Geral , Fator Neurotrófico Derivado do Encéfalo/genética , Eletroencefalografia/efeitos dos fármacos , Sistema Imunitário , Isoflurano/análogos & derivados , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Anestésicos Inalatórios/uso terapêutico , Desflurano , Procedimentos Cirúrgicos Eletivos , Feminino , Genótipo , Humanos , Isoflurano/uso terapêutico , Masculino , Pessoa de Meia-Idade , Monitorização Intraoperatória , Plasticidade Neuronal/genética , Estatísticas não Paramétricas , Adulto Jovem
5.
Cases J ; 3(1): 40, 2010 Jan 28.
Artigo em Inglês | MEDLINE | ID: mdl-20181041

RESUMO

BACKGROUND: Microscopic examination of all surgical specimens is controversial. CASE PRESENTATION: We report two cases where examination has revealed unexpected results that have changed patient management and treatment. CONCLUSIONS: Histopathological examination of all tissue should be considered. The benefits and disadvantages of routine examination of tissue are discussed.

6.
JSLS ; 12(2): 143-9, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18435886

RESUMO

BACKGROUND: The short-term benefits of laparoscopic surgery are well established, particularly within an enhanced recovery program. Early return to activity is to be expected but has not been quantified. The aim of this study was to measure the hospital stay and return to full activity following laparoscopic colorectal surgery and compare this with laparoscopic cholecystectomy and laparoscopic inguinal hernia repair. METHODS: All totally laparoscopic gallbladder, inguinal hernia, and colorectal operations performed between January 2003 and October 2006 were included. Outcomes were collected from a prospective database and case notes. Post discharge information was collected by telephone interview. A comparison was made by creating 4 groups: laparoscopic cholecystectomy, laparoscopic inguinal hernia repair (Transabdominal PrePeritoneal [TAPP]), laparoscopic colorectal nonresectional, and resectional surgery. RESULTS: The median hospital stay following laparoscopic colorectal resection was 7 days, while in the cholecystectomy and hernia group it was 1 day. The median return to full activity after discharge from the hospital was 4, 5, 3, and 7 days in the laparoscopic cholecystectomy, inguinal hernia repair, nonresection, and colorectal resection groups, respectively. CONCLUSIONS: Following laparoscopic colorectal surgery, patients can be expected to return to their usual activities within a week after discharge from the hospital and less than 2 weeks from surgery.


Assuntos
Colectomia/estatística & dados numéricos , Colo/cirurgia , Laparoscopia/estatística & dados numéricos , Tempo de Internação/estatística & dados numéricos , Recuperação de Função Fisiológica , Reto/cirurgia , Atividades Cotidianas , Idoso , Colecistectomia Laparoscópica/estatística & dados numéricos , Feminino , Hérnia Inguinal/cirurgia , Humanos , Enteropatias/cirurgia , Masculino
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