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The transoral endoscopic thyroidectomy vestibular approach (TOETVA) is an innovative technique in thyroid surgery. This review compiles current research on TOETVA, covering its development, anatomical challenges, techniques, selection of suitable patients, results, complications, and future advancements. We performed a comprehensive literature review on PubMed, EMBASE, and Cochrane databases for articles published up to 15th March 2024. The search strategy included a combination of terms focused on "vestibular approach" and "thyroidectomy". The review underscores the necessity for preoperative planning and careful patient selection to reduce risks and enhance outcomes. It discusses the unique anatomical challenges of TOETVA, such as avoiding mental nerve damage and the complexities involved in creating a subplatysmal space. Outcomes of TOETVA, including surgical duration, complication rates, and recovery times, are compared favorably to traditional methods. The approach is particularly noted for high patient satisfaction and superior cosmetic results. Complications specific to TOETVA, like infection, bleeding, and potential harm to the recurrent laryngeal nerve, are recognized. Future research directions are discussed as well. In summary, TOETVA is a promising alternative for thyroidectomy with excellent cosmetic outcomes and patient satisfaction. Success relies on selective patient criteria, surgical expertise, and continuous research to refine the approach.
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Introduction: Gastric antral vascular ectasia (GAVE) is a rare cause of chronic or acute gastrointestinal bleeding. This condition accounts for â¼4% of upper gastrointestinal bleeding cases. This disease is often associated with systemic diseases, such as liver cirrhosis, chronic kidney failure, autoimmune conditions, diabetes mellitus, hypothyroidism, and cardiovascular diseases. However, its etiopathogenesis remains controversial. Materials and method: We retrospectively reviewed the cases of GAVE treated at our digestive surgery unit. A total of nine patients were identified with a male/female ratio of 1.25:1 and an average age of 75.51 years (SD ± 9.85). All patients underwent endoscopic argon plasma coagulation (APC) treatment. At the time of the review, data on eight patients were available after 36 months of follow-up. Results: APC appears to be safe and effective for hemostasis of bleeding vascular ectasia. Only one (11.1%) patient required surgical intervention due to hemodynamic instability after multiple unsuccessful endoscopic treatments. No intraoperative and postoperative complication or bleeding relapse was experienced. Discussion: Based on our findings, we concluded that endoscopic APC is technically simple, but requires multiple re-interventions due to the incidence of relapses. Furthermore, larger randomized studies should be conducted to assess the role of elective surgery as the first intervention in stable patients with severe pathology and the timing of surgery after failed endoscopic treatment.
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BACKGROUND: The incidence of the highly morbid and potentially lethal gangrenous cholecystitis was reportedly increased during the COVID-19 pandemic. The aim of the ChoCO-W study was to compare the clinical findings and outcomes of acute cholecystitis in patients who had COVID-19 disease with those who did not. METHODS: Data were prospectively collected over 6 months (October 1, 2020, to April 30, 2021) with 1-month follow-up. In October 2020, Delta variant of SARS CoV-2 was isolated for the first time. Demographic and clinical data were analyzed and reported according to the STROBE guidelines. Baseline characteristics and clinical outcomes of patients who had COVID-19 were compared with those who did not. RESULTS: A total of 2893 patients, from 42 countries, 218 centers, involved, with a median age of 61.3 (SD: 17.39) years were prospectively enrolled in this study; 1481 (51%) patients were males. One hundred and eighty (6.9%) patients were COVID-19 positive, while 2412 (93.1%) were negative. Concomitant preexisting diseases including cardiovascular diseases (p < 0.0001), diabetes (p < 0.0001), and severe chronic obstructive airway disease (p = 0.005) were significantly more frequent in the COVID-19 group. Markers of sepsis severity including ARDS (p < 0.0001), PIPAS score (p < 0.0001), WSES sepsis score (p < 0.0001), qSOFA (p < 0.0001), and Tokyo classification of severity of acute cholecystitis (p < 0.0001) were significantly higher in the COVID-19 group. The COVID-19 group had significantly higher postoperative complications (32.2% compared with 11.7%, p < 0.0001), longer mean hospital stay (13.21 compared with 6.51 days, p < 0.0001), and mortality rate (13.4% compared with 1.7%, p < 0.0001). The incidence of gangrenous cholecystitis was doubled in the COVID-19 group (40.7% compared with 22.3%). The mean wall thickness of the gallbladder was significantly higher in the COVID-19 group [6.32 (SD: 2.44) mm compared with 5.4 (SD: 3.45) mm; p < 0.0001]. CONCLUSIONS: The incidence of gangrenous cholecystitis is higher in COVID patients compared with non-COVID patients admitted to the emergency department with acute cholecystitis. Gangrenous cholecystitis in COVID patients is associated with high-grade Clavien-Dindo postoperative complications, longer hospital stay and higher mortality rate. The open cholecystectomy rate is higher in COVID compared with non -COVID patients. It is recommended to delay the surgical treatment in COVID patients, when it is possible, to decrease morbidity and mortality rates. COVID-19 infection and gangrenous cholecystistis are not absolute contraindications to perform laparoscopic cholecystectomy, in a case by case evaluation, in expert hands.
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COVID-19 , Colecistite Aguda , Colecistite , Sepse , Masculino , Humanos , Pessoa de Meia-Idade , Feminino , Pandemias , SARS-CoV-2 , COVID-19/epidemiologia , Colecistite/epidemiologia , Colecistite/cirurgia , Colecistite Aguda/epidemiologia , Colecistite Aguda/cirurgia , Complicações Pós-Operatórias/epidemiologiaRESUMO
BACKGROUND: Gallbladder hemorrhage is a life-threatening disorder. Trauma (accidental or iatrogenic such as a percutaneous biopsy or cholecystectomy surgery), cholelithiasis, biliary tract parasitosis, vasculitis, vascular malformations, autoimmune and neoplastic diseases and coagulopathies have been described as causes of hemorrhage within the lumen of the gallbladder. The use of non-steroidal anti-inflammatory drugs and anticoagulants may represent a risk factor. CASE SUMMARY: We report the case of a 76-year-old male patient. An urgent contrast computed tomography scan demonstrated relevant distension of the gallbladder filled with hyperdense non-homogeneous content. The gallbladder walls were of regular thickness. Near the anterior wall a focus of suspected active bleeding was observed. Due to the progressive decrease in hemoglobin despite three blood transfusions, this was an indication for urgent surgery. CONCLUSION: Early diagnosis of this potentially fatal pathology is essential in order to plan a strategy and eventually proceed with urgent surgical treatment.
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BACKGROUND: Intraoperative hypotension is associated with increased postoperative morbidity and mortality. METHODS: We randomly assigned patients undergoing major general surgery to early warning system (EWS) and hemodynamic algorithm (intervention group, n = 20) or standard care (n = 20). The primary outcome was the difference in hypotension (defined as mean arterial pressure < 65 mmHg) and as secondary outcome surrogate markers of organ injury and oxidative stress. RESULTS: The median number of hypotensive episodes was lower in the intervention group (-5.0 (95% CI: -9.0, -0.5); p < 0.001), with lower time spent in hypotension (-12.8 min (95% CI: -38.0, -2.3 min); p = 0.048), correspondent to -4.8% of total surgery time (95% CI: -12.7, 0.01%; p = 0.048).The median time-weighted average of hypotension was 0.12 mmHg (0.35) in the intervention group and 0.37 mmHg (1.11) in the control group, with a median difference of -0.25 mmHg (95% CI: -0.85, -0.01; p = 0.025). Neutrophil Gelatinase-Associated Lipocalin (NGAL) correlated with time-weighted average of hypotension (R = 0.32; p = 0.038) and S100B with number of hypotensive episodes, absolute time of hypotension, relative time of hypotension and time-weighted average of hypotension (p < 0.001 for all). The intervention group showed lower Neuronal Specific Enolase (NSE) and higher reduced glutathione when compared to the control group. CONCLUSIONS: The use of an EWS coupled with a hemodynamic algorithm resulted in reduced intraoperative hypotension, reduced NSE and oxidative stress.
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BACKGROUND: The prognosis of colorectal cancer depends on the number of positive lymph nodes (LN+) and the total number of lymph nodes resected (rLN). This represents the lymph-node ratio (LNR). The aim of our study is to assess how the length of the resected specimen (RL) influences the prognostic values of the LNR. METHODS: We conducted a retrospective study of all the patients operated on for colorectal cancer from 2000 to 2015 at our institution. Pathology details were analysed. The total number of rLN, the number of LN+, and the LNR were calculated and measured against the RL. The receiver-operating characteristic (ROC) curve of patients with LN+ was calculated. RESULTS: Of the 670 patients included in our study, 337 were men (50.3%) and the mean age was 69.2 years. The correlation with prognosis of the LNR is greater than that of the LNR adjusted to RL (LNR/RL), both in subjects with positive nodes (n = 312) and in all cases (n = 670). The LNR presents a higher prognostic value than LNR/RL and RL in patients with LN+ except for metastatic recurrence, for which the predictive value appears slightly higher for LNR/RL. The statistical significance of the maximal divergence in Kaplan-Meier survival plots was demonstrated for the LNR (P = 0.043), not for LNR/RL (P = 0.373) and RL alone (P = 0.314). CONCLUSION: An increase in RL causes an increase in the number of harvested lymph nodes without affecting the number of LN+, thus representing a confounding factor that could alter the prognostic value of the LNR. Prospective larger-scale studies are needed to confirm these findings.
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Acetaminofen , Analgésicos não Narcóticos , Analgésicos Opioides , Humanos , Dor Pós-OperatóriaRESUMO
The use of endoscopic techniques to cure small sized, well differentiated early gastric cancer has been adopted worldwide. In the Eastern world, endoscopic resection is being increasingly utilized to treat small undifferentiated early gastric cancer according to the extended criteria proposed by the Japanese Gastric Cancer Associations. However, studies in the Western world reported in these tumors a rate of nodal metastasis ranging between 5% and 20%, that is higher of those observed in Eastern counterparts. A tool to predict the risk of nodal dissemination would be of great use to guide treatment toward endoscopic resection. In our study, we propose E-cadherin expression as a biological factor to predict lymph node involvement. We retrospectively reviewed the E-cadherin (E-cad) expression profile of all histological specimens of undifferentiated early gastric cancer from two Oncologic Departments and compared it with several tumor characteristics. A total of 39 patients with early gastric cancer met the inclusion criteria, of which 16 (41%) pT1a, and 23 (58.9%) pT1b SM1. Thirty-two patients (82%) underwent subtotal gastrectomy, whereas total gastrectomy was performed in only seven cases (17.9%). Patients were divided into two groups: low E-cad expression (E-cad 0/1+, 10 patients) and high E-cad expression (E-cad 2+/3+, 29 patients) according to the immunohistochemical assay (ICH). On univariate analysis, we found an association between low E-cad expression and low grading tumor (p = 0.019), pure undifferentiated histotype (PU-type) (p = 0.014), and lymph node involvement (N+) (p < 0.001). The association between low E-cad expression and lymph node metastasis was confirmed by multivariate analysis (OR = 14.5, 95% CI 3.46-60.76, p < 0.001). The loss of expression of E-cad may be a simple biological factor to predict lymph nodes metastasis in patients with undifferentiated early gastric cancer. Additional larger prospective studies are necessary to confirm these findings.
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Caderinas/análise , Metástase Linfática/patologia , Neoplasias Gástricas/patologia , Idoso , Feminino , Humanos , Metástase Linfática/diagnóstico , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Neoplasias Gástricas/diagnósticoRESUMO
BACKGROUND: Gastrointestinal Stromal Tumours (GIST) are the most frequent mesenchymal tumour of the alimentary tract. Their prognosis is largely variable as are their size, mitotic rate and site, the stomach being mostly affected. Several risk classifications have been proposed: two developed by the NIH, one proposed by the AFIP and one presented by the AJCC in 2010. The objective of this study is to compare the accuracy of the three prognostic models (AJCC, NIH and AFIP) with regard to survival after surgery, also based on the different surgical approaches. METHODS: A retrospective review of all cases of gastric GIST's performed at the General and Breast Surgery Unit of the Department of General Surgery the University of Catania and at the "Gemelli" General Surgery Unit of Taormina Hospital, Italy between 2001 and 2016 was conducted. The cases were reviewed and re- classified according to the three prognostic models. Analysis of data, including Kaplan-Meyer survival curves, was performed using SPSS version 21.0. RESULTS: Among a total of 1,625 gastrectomies and gastric resections were found 25 primary GIST's patients, 13 females, and 12 males, with a mean age 63 years. Cancer size varied between 1.5 cm and 37 cm and number of mitosis between 2 and 50/50 HPF. A total of 12 (48%) underwent sub-total gastrectomy (STG), seven (28%) underwent a wedge resection (WR), and 6 (12%) total Gastrectomy (TG). Twenty-three patients (92%) are currently alive at a follow up of 18 months to 17 years, and only two patients died during the long term follow-up. Both patients were AFIP high risk (6b), AJCC stage IV, already metastatic at the time of surgery. Both patients underwent total extended gastrectomy and therapy with imatinib, but died 8 and 9 years after surgery. Recurrences have been observed in 2 patients (8%), with high risk according to AFIP (6a) with AJCC stage IIIa disease. CONCLUSIONS: In localized GISTs R0 surgical resection is the standard therapy as it leads to excellent outcomes. Our findings suggest that all the three classifications considered are adequate to achieve a correct prognostic evaluation. KEY WORDS: GIST, Prognostic factors, Prognostic models.
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Gastrectomia , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/cirurgia , Modelos Estatísticos , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
Long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) contribute to the onset of many neoplasias through RNA-RNA competitive interactions; in addition, they could be secreted by cancer cells into biological fluids, suggesting their potential diagnostic application. By analyzing the expression of 17 lncRNAs and 31 circRNAs in biopsies and serum exosomes from colorectal cancer (CRC) patients through qRT-PCR, we detected CCAT1, CCAT2, HOTAIR, and UCA1 upregulation and CDR1AS, MALAT1, and TUG1 downregulation in biopsies. In serum exosomes, UCA1 was downregulated, while circHIPK3 and TUG1 were upregulated. Combined receiver operating characteristic (ROC) curves of TUG1:UCA1 and circHIPK3:UCA1 showed high values of sensitivity and specificity. Through in vitro (i.e., RNA silencing and mitogen-activated protein kinase [MAPK] inhibition) and in silico analyses (i.e., expression correlation and RNA-RNA-binding prediction), we found that UCA1 could (1) be controlled by MAPKs through CEBPB; (2) sequester miR-135a, miR-143, miR-214, and miR-1271, protecting ANLN, BIRC5, IPO7, KIF2A, and KIF23 from microRNA (miRNA)-induced degradation; and (3) interact with mRNA 3'-UTRs, preventing miRNA binding. UCA1 and its co-regulated antisense LINC01764 could interact and reciprocally mask their own miRNA-binding sites. Functional enrichment analysis of the RNA-RNA network controlled by UCA1 suggested its potential involvement in cellular migration. The UCA1 regulatory axis would represent a promising target to develop innovative RNA-based therapeutics against CRC.
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INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is a rare neoplasm that exceptionally can affect the breast, always originating from skin and dermis, so imposing large sacrifice of skin. Only few cases have been reported of intraparenchymal DFS. We describe a unique case of giant intraparenchymal DFS that required removal of all the gland and reconstructive surgery. CASE REPORT: A 34 years old woman presents with a quickly growing breast mass, about 12 cm, with radiological features suggestive for giant fibroadenoma or mesenchymal neoplasm. The histology showed a Dermatofibrosarcoma protuberans infiltrating the surrounding parenchyma. The need for radicalization imposed, due to the size of the tumour, a nipple sparing mastectomy. The reconstruction has been performed using a new type of Acellular Dermal Matrix (ADM) mesh to wrap the prosthesis that has been placed and fixed over the great pectoral muscle. RESULTS: The final histologic report showed that the residual parenchyma and the skin removed were free from neoplastic infiltration. The patient is free from recurrence at 24 months from the surgery and the cosmetic result is excellent. DISCUSSION AND CONCLUSIONS: The treatment of DFSP should be aimed to prevent local recurrence, that are usually located in the scar or very close to it. Large size DFS can impose even mastectomy. If skin is not compromised like in this case, a nipple sparing mastectomy is suitable and the one time reconstruction with ADM wrapping of the prosthesis and fixation over the muscle can help to spare time, avoid complications and pain medication and reach excellent cosmetic resu. KEY WORDS: Acellular Dermal Matrix (ADM) mesh, Protuberans, Breast neoplasms, Dermatofibrosarcoma, Mastectomy, Nipple sparing, reconstructive surgery.
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Derme Acelular , Dermatofibrossarcoma/cirurgia , Mamoplastia/métodos , Adulto , Implante Mamário/métodos , Implantes de Mama , Neoplasias da Mama/cirurgia , Feminino , Humanos , Mastectomia Segmentar/métodos , Mamilos , Tratamentos com Preservação do ÓrgãoRESUMO
INTRODUCTION: Some factors may affect the conversion to open of the laparoscopic treatment of incisional hernia. Their presence can help to choose the most appropriate technique identifying patients at high risk conversion. METHODS: A retrospective study has been performed on a cohort of 306 patients, selected among those undergone to elective laparoscopic surgery for post incisional hernia between 2005 and 2015. Only symptomatic patients with single site wall defect, diameter between 5 and 10 cm, ASA ≤3, have been included. Patients were divided in 2 groups, Laparoscopic (L) and Converted (C) and preoperatory data were evaluated and statistically analyzed. RESULTS: The L group accounted for 228 patients and C group for 78 patients. The univariate analysis showed that risk factor for conversion included BMI ≥ 30, Smoking, Diabetes mellitus, Prior emergency surgery. Age > 60 years was associate with lower risk of conversion. CONCLUSIONS: The result of this retrospective study allows us to say that the choice of the technique, in the presence of multiple risk factors, should be carefully assessed and discussed with the patient. A prospective study with a larger number of patients would allow a better definition of the risk determined by individual factors and the development of a score that could be used in practice to simplify the risk assessment KEY WORDS: Conversion to open surgery, Incisional hernia, Laparoscopy, Risk factors.
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Hérnia Incisional/cirurgia , Laparoscopia/métodos , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Conversão para Cirurgia Aberta , Diabetes Mellitus/epidemiologia , Emergências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Recidiva , Estudos Retrospectivos , Fatores de Risco , Fumar/epidemiologia , Adulto JovemRESUMO
Gastric cancer is one of the most dreadful neoplastic diseases and remains the second cause of cancer death worldwide. Patients who develop peritoneal metastasis have a poor prognosis, with a median survival of less than 6 months. Despite being the cause of 60% of deaths from gastric cancer, peritoneal metastasis can still be considered a local disease and a local multidisciplinary approach can improve the prognosis even in this end-stage disease. At present, hyperthermic intraperitoneal chemotherapy (HIPEC) is the most widely accepted treatment for peritoneal surface diseases and can be performed in patients with different stages of cancer and with various antitumoral drugs. We performed a systematic review of the current status of HIPEC in the treatment of gastric peritoneal metastasis in an attempt to obtain answers to the questions that still remain: do results differ with these different methods? Does HIPEC exert a significant effect on the intracavitary delivery of drugs? Which patients should be treated and which should not? What can we expect from this approach in terms of survival, morbidity, and mortality? On reviewing the literature, despite the lack of trials comparing the different methods, we found that HIPEC has been shown to be an effective tool whenever a complete or an almost complete resection of the peritoneal implants can be performed. Therefore, it is advisable to refer all at-risk patients to specialized centers to be enrolled in randomized trials to achieve truly reliable results.
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Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Hipertermia Induzida/métodos , Neoplasias Peritoneais/terapia , Neoplasias Gástricas/patologia , Neoplasias Gástricas/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Quimioterapia Adjuvante , Humanos , Hipertermia Induzida/efeitos adversos , Terapia Neoadjuvante , Neoplasias Peritoneais/tratamento farmacológico , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/secundário , Neoplasias Peritoneais/cirurgia , Cuidados Pré-Operatórios , Neoplasias Gástricas/tratamento farmacológico , Neoplasias Gástricas/cirurgia , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
INTRODUCTION: Gallbladder cancer (GBC) is the fifth most common neoplasm of the gastrointestinal tract and the most common cancer of the biliary tract. GBC is suspected preoperatively in only 30-40% of patients. The other 60-70% are discovered incidentally (IGBC) by the pathologist on a gallbladder specimen following cholecystectomy for benign diseases such as polyps, gallstones, and cholecystitis. MATERIALS AND METHODS: Between 1995 and 2011, 30 cases of GBC, who underwent resection with curative intent in our institutions, were retrospectively reviewed. They were analyzed for demographic data, and type of operation, surgical morbidity and mortality, histopathological classification, and survival. Incidental GBC was compared with suspected or preoperatively diagnosed GBC. Overall survival, disease-free survival (DFS) and the difference in DFS between patients previously treated with laparoscopic cholecystectomy and those who had oncological resection as first intervention were analyzed. The authors also present a systematic review to evaluate the role of extended surgery in the treatment of the incidental GBC. RESULTS: GBC was diagnosed in 30 patients, 16 women and 14 men. The M/F ratio was 1:1.14 and the mean age was 69.4 years (range 45-83 years). A preoperative diagnosis was possible only in 14 cases; fourteen of the incidental cases were diagnosed postoperatively after the pathological examination; two were suspected intraoperatively at the opening of the surgical specimen and then confirmed by frozen sections. The ratio between incidental and nonincidental cases was 1, 14/1, with twelve cases discovered after laparoscopic cholecystectomy. Eighty-one per cent of the incidental cases were discovered at an early stage (≤II). The preoperative diagnosis of the 30 patients with GBC was: GBC with liver invasion diagnosed by preoperative CT (nine cases); gallbladder abscess perforated into hepatic parenchyma and involving the transversal mesocolon and hepatic hilum (one case); porcelain gallbladder (three cases); gallbladder adenoma (four cases); and chronic cholecystolithiasis (thirteen cases). Every case, except one, with a T1b or more advanced invasion underwent IVb + V wedge liver resection and pericholedochic/hepatoduodenal lymphoadenectomy. One patient refused further surgery. Cases with Tis and T1a involvement were treated with cholecystectomy alone. Nine of the sixteen patients with incidental diagnosis reached 5-year DFS (56.25%) and eight of them are recurrence free. Surprisingly, one patient reached 38 mo survival despite a port-site recurrence (the only one in our experience) 2 years after the original surgery requiring further resection. Cases with non incidental diagnosis were more locally advanced and only two patients experienced 5 years DFS (Tables 2 and 3). CONCLUSION: Laparoscopic cholecystectomy does not affect survival if implemented properly. Reoperation should have two objectives: R0 resection and clearance of the lymph nodes.
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Adenocarcinoma/cirurgia , Adenoma/cirurgia , Colecistectomia Laparoscópica , Doenças da Vesícula Biliar/cirurgia , Neoplasias da Vesícula Biliar/cirurgia , Achados Incidentais , Adenocarcinoma/patologia , Adenoma/patologia , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Colecistectomia , Colecistite/cirurgia , Intervalo Livre de Doença , Feminino , Neoplasias da Vesícula Biliar/patologia , Cálculos Biliares/cirurgia , Hepatectomia , Humanos , Excisão de Linfonodo , Masculino , Pessoa de Meia-Idade , Reoperação , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome, caused by germline mutations in the adenomatous polyposis coli (APC) suppressor gene. Patients with colorectal polyps are more likely to develop a malignant condition with poor prognosis. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extra-colonic manifestations; an attenuated form of polyposis (AFAP), presenting less than 100 adenomas and later onset, has been reported. In this study we have examined five Sicilian families affected by FAP syndrome, in order to provide predictive genetic testing for the affected families, as well as to contribute to mutation catalog enrichment. We have detected different APC mutations in these five pedigrees, confirming the remarkable heterogeneity of the mutational spectrum in FAP.
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Adenocarcinoma/genética , Proteína da Polipose Adenomatosa do Colo/genética , Polipose Adenomatosa do Colo/genética , População Branca/genética , Adulto , Feminino , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , SicíliaRESUMO
HNPCC is an autosomal inherited cancer syndrome characterized by germinal and somatic mutations of DNA mismatch repair (MMR) genes. The inherited mutation in one allele together with an acquired defect in the other allele of an MMR gene leads to accelerate tumor progression. In this study we analyzed a cohort of 11 subjects belonging to four Sicilian families with HNPCC suspected by molecular analysis of coding regions of hMSH2 (NC_000002) and hMLH1 (NC_000003) genes. Molecular analysis has detected the presence of two mutations in gene MSH2 and one mutation in MHL1 gene. In addition, we found a novel mutation consisting in a G deletion at 914 codon of the exon 16 in the MSH2 gene. This deletion leads to a stop codon due to a frame-shift, resulting in a truncated protein. We extended genetic analysis to the other family members and the same mutation was detected in three sisters and in one of the two healthy daughters. This mutation is correlated with clinical findings revealed in genealogic tree and it represents a novel mutation responsible of HNPCC.
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Proteínas Adaptadoras de Transdução de Sinal/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Reparo de Erro de Pareamento de DNA/genética , Proteína 2 Homóloga a MutS/genética , Proteínas Nucleares/genética , População Branca/genética , Adulto , Feminino , Testes Genéticos , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Mutação , Linhagem , Sicília , Adulto JovemRESUMO
The use of mechanical stapling devices in laparoscopic appendectomies has become a common practice. Occasionally, the retained staples have been described to cause adhesions that might result in bowel obstruction. Early bowel obstruction after routine abdominal surgery should be closely investigated and might warrant early re-exploration. We present a rare case of small bowel obstruction caused by a staple line adhesive band one week after appendectomy. A 46-year-old female underwent laparoscopic appendectomy for uncomplicated appendicitis. A linear endoscopic stapling device was utilized during the procedure. The patient was discharged without complication. One week later, the patient presented to the emergency room for abdominal pain and she was discharged after adequate pain control. Several hours later she returned with similar symptoms, and she was diagnosed with distal small bowel obstruction by computed tomography scan. During the diagnostic laparoscopy there was an internal hernia through a defect created by the appendiceal staple line and the adjacent small bowel mesentery. After reduction of the hernia, the small bowel venous drainage improved, and no intestinal resection was necessary. The offending staple was removed and the staple line covered with omentum. The patient had complete resolution of symptoms and she was discharged the following day. No perioperative complications occurred. Mechanical staplers are routinely used in laparoscopic appendectomy. The staple line should be inspected at the end of the procedure to confirm the absence of free, unformed staples that can generate adhesions and postoperative complications.
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Apendicectomia/instrumentação , Apendicite/cirurgia , Hérnia Abdominal/etiologia , Obstrução Intestinal/etiologia , Laparoscopia , Complicações Pós-Operatórias/etiologia , Suturas/efeitos adversos , Apendicectomia/métodos , Feminino , Hérnia Abdominal/diagnóstico , Humanos , Obstrução Intestinal/diagnóstico , Intestino Delgado , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnósticoRESUMO
Gastric neuroendocrine tumors (g-NETs), which originate from gastric enterochromaffin-like (ECL) mucosal cells and account for 2.4% of all carcinoids, are increasingly recognized due to expanding indications of upper gastrointestinal endoscopy. Often silent and benign, g-NETs may however, be aggressive and sometimes they mimic the course of gastric adenocarcinoma. Current nosography distinguishes those occurring in chronic conditions with hypergastrinemia, as the type 1 associated with chronic atrophic gastritis, and the type 2 associated with Zollinger-Ellison syndrome in MEN1. Conversely, type 3 and 4 (according to some authors) are unrelated to hypergastrinemia and are frequently malignant, with a propension to develop distant metastases. While there is a general agreement concerning the treatment of malignant gastric neuroendocrine tumors, for types 1 and 2, current possibilities include surveillance, endoscopic polypectomy, surgical excision, associated or not with surgical antrectomy, or total gastrectomy. This report, based on our clinical experience, discusses how the size, number, depth, histological grading, staging with CT, MRI, and the use of recently developed somatostatin receptor tracers (68Ga-DOTATATE, 68Ga-DOTA-TOC) could allow the correct identification of a benign or malignant propensity of an individual tumor, thus avoiding underestimation or overtreatment of these uncommon neoplasms.