Genetic Determinants for Prediction of Outcome of Patients with Papillary Thyroid Carcinoma.

Papillary thyroid carcinoma (PTC) usually presents an excellent prognosis, but some patients present with aggressive metastatic disease. BRAF, RAS, and TERT promoter (TERTp) genes are altered in PTC, and their impact on patient outcomes remains controversial. We aimed to determine the role of genetic alterations in PTC patient outcomes (recurrent/persistent disease, structural disease, and disease-specific mortality (DSM)). The series included 241 PTC patients submitted to surgery, between 2002-2015, in a single hospital. DNA was extracted from tissue samples of 287 lesions (primary tumors and metastases). Molecular alterations were detected by Sanger sequencing. Primary tumors presented 143 BRAF, 16 TERTp, and 13 RAS mutations. Isolated TERTpmut showed increased risk of structural disease (HR = 7.0, p < 0.001) and DSM (HR = 10.1, p = 0.001). Combined genotypes, BRAFwt/TERTpmut (HR = 6.8, p = 0.003), BRAFmut/TERTpmut (HR = 3.2, p = 0.056) and BRAFmut/TERTpwt (HR = 2.2, p = 0.023) showed increased risk of recurrent/persistent disease. Patients with tumors BRAFwt/TERTpmut (HR = 24.2, p < 0.001) and BRAFmut/TERTpmut (HR = 11.5, p = 0.002) showed increased risk of structural disease. DSM was significantly increased in patients with TERTpmut regardless of BRAF status (BRAFmut/TERTpmut, log-rank p < 0.001; BRAFwt/TERTpmut, log-rank p < 0.001). Our results indicate that molecular markers may have a role in predicting PTC patients' outcome. BRAFmut/TERTpwt tumors were prone to associate with local aggressiveness (recurrent/persistent disease), whereas TERTpmut tumors were predisposed to recurrent structural disease and DSM.

Clinicopathological Features as Prognostic Predictors of Poor Outcome in Papillary Thyroid Carcinoma.

Papillary thyroid cancer (PTC) has an indolent nature and usually excellent prognosis. Some PTC clinicopathological features may contribute to the development of aggressive metastatic disease. In this work, we want to evaluate PTC clinicopathological features that are presurgical prognostic predictors of patients' outcomes and find which indicators are more adequate for tailoring surgical procedures and follow-up. We studied a series of 241 PTC patients submitted to surgery. All patients' files and histological tumor samples were reviewed. The 8th edition AJCC/UICC (American Joint Committee on Cancer/Union for International Cancer) Controlstaging system and the 2015 American Thyroid Association risk stratification system were used. Total thyroidectomy was performed in 228 patients, lymphadenectomy in 28 patients. Gross extrathyroidal extension (ETE) was present in 10 patients and 31 tumor resection margins were incomplete. Cervical lymph node metastases (LNMs) were present in 34 patients and distant metastases at diagnosis in four patients. In multivariate analysis, male gender (OR = 15.4, p = 0.015), venous invasion (OR = 16.7, p = 0.022), and lateral compartment LNM (OR = 26.7, p = 0.004) were predictors of mortality; psammoma bodies (PBs) (OR = 4.5, p = 0.008), lymph vessel invasion (OR = 6.9, p < 0.001), and gross ETE (OR = 16.1, p = 0.001) were predictors of structural disease status; male gender (OR = 2.9, p = 0.011), lymph vessel invasion (OR = 2.8, p = 0.006), and incomplete resection margins (OR = 4.6, p < 0.001) were predictors of recurrent/persistent disease. Our study supports that the factors helping to tailor patient's surgery are male gender, presence of PBs, gross ETE, and lateral compartment LNM. Together with pathological factors, lymph vessel invasion, venous invasion, necrosis, and incomplete surgical resection, should be taken into consideration regarding treatment and follow-up of patients.

Impact on sexual function of surgical treatment in rectal cancer

ABSTRACT Introduction The development of new surgical techniques and medical devices, like therapeutical multimodal approaches has allowed for better outcomes on patients with rectal cancer (RCa). Owing to that, an increased awareness and investment towards better outcomes regarding patients' sexual and urinary function has been recently observed. Aim Evaluate and characterize the sexual dysfunction of patients submitted to surgical treatment for RCa. Materials and Methods An observational retrospective study including all male patients who underwent a surgical treatment for RCa between January 2011 December 2014 (n=43) was performed, complemented with an inquiry questionnaire to every patient about its sexual habits and level of function before and after surgery. Discussion All patients were male, with an average of 64yo. (range 42-83yo.). The surgical procedure was a rectum anterior resection (RAR) in 22 patients (56%) and an abdominoperineal resection (APR) in 19(44%). Sixty three percent described their sexual life as important/very important. Sexual function worsening was observed in 76% (65% with complains on erectile function, and 27% on ejaculation). Fourteen patients (38%) didn't resume sexual activity after surgery. Increased age (p=0.007), surgery performed (APR) (p=0.03) and the presence of a stoma (p=0.03) were predictors of ED after surgery. A secondary analysis found that the type of surgery (APR) (p=0.04), lower third tumor's location (p=0.03) and presence of comorbidities (p=0.013) (namely, smokers and diabetic patients) were predictors of de novo ED after surgery. Conclusions This study demonstrated the clear negative impact in sexual function of patients submitted to a surgical treatment for RCa. Since it is a valued feature for patients, it becomes essential to correctly evaluate/identify these cases in order to offer an adequate therapeutical option.

Impact on sexual function of surgical treatment in rectal cancer.

INTRODUCTION: The development of new surgical techniques and medical devices, like therapeutical multimodal approaches has allowed for better outcomes on patients with rectal cancer (RCa). Owing to that, an increased awareness and investment towards better outcomes regarding patients' sexual and urinary function has been recently observed. AIM: Evaluate and characterize the sexual dysfunction of patients submitted to surgical treatment for RCa. MATERIALS AND METHODS: An observational retrospective study including all male patients who underwent a surgical treatment for RCa between January 2011 December 2014 (n=43) was performed, complemented with an inquiry questionnaire to every patient about its sexual habits and level of function before and after surgery. DISCUSSION: All patients were male, with an average of 64yo. (range 42-83yo.). The surgical procedure was a rectum anterior resection (RAR) in 22 patients (56%) and an abdominoperineal resection (APR) in 19(44%). Sixty three percent described their sexual life as important/very important. Sexual function worsening was observed in 76% (65% with complains on erectile function, and 27% on ejaculation). Fourteen patients (38%) didn't resume sexual activity after surgery. Increased age (p=0.007), surgery performed (APR) (p=0.03) and the presence of a stoma (p=0.03) were predictors of ED after surgery. A secondary analysis found that the type of surgery (APR) (p=0.04), lower third tumor's location (p=0.03) and presence of comorbidities (p=0.013) (namely, smokers and diabetic patients) were predictors of de novo ED after surgery. CONCLUSIONS: This study demonstrated the clear negative impact in sexual function of patients submitted to a surgical treatment for RCa. Since it is a valued feature for patients, it becomes essential to correctly evaluate/identify these cases in order to offer an adequate therapeutical option.

Conventional clinical and pathological features fail to accurately predict recurrence in patients with gastric cancer staged N0.

INTRODUCTION: Despite the medical-surgical advances, even after R0 gastric resections, some patients without apparent metastatic disease develop cancer recurrence and eventually die. AIMS: We aimed to define recurrence in patients with node-negative gastric adenocarcinoma and to determine whether any clinicopathological features are predictive for recurrence. MATERIALS AND METHODS: This was a retrospective cohort study on patients with gastric adenocarcinoma, consecutively diagnosed at our institution, staged as N0M0 between January 2000 and December 2008. RESULTS: We recruited 129 patients; 53% were men and 56% were older than 60 years. A total of 22% of the patients developed recurrence, with a mortality rate of 93%. Overall, 71% of the patients, N0, with recurrence presented lymphatic permeation. In univariate analysis, on comparing recurrent patients with those with no recurrence, age, size, T status, lymphatic, and venous permeation were factors that were associated significantly with recurrence, but in multivariate analysis, only age (odds ratio:19.5; 95% confidence interval: 2.3-168; P=0.008) and venous permeation (odds ratio: 6.34; 95% confidence interval: 1.8-22.8; P=0.005) were associated with recurrence. On the basis of only these two factors, the proportion of missed recurrent patients by age and venous permeation was 13 and 39%, respectively. CONCLUSION: A total of 22% of patients, N0, developed recurrence of their disease. Age and venous permeation were independent risk factors for recurrence, but on the basis of these factors, up to 40% of patients may be missed for recurrence. New methods to predict recurrence are needed.

Ruptured jejunal artery aneurysm.

Visceral artery aneurysms (VAAs), unlike aortic aneurysms, are very rare, but are also a potentially lethal vascular disease. Jejunal artery aneurysms only account for less than 3% of VAAs, but have a 30% risk of rupture, with 20% death rate, presenting with only few and vague symptoms. We report the case of a 76-year-old man presenting at the emergency department (ED) with a crampy epigastric pain and vomiting. An ultrasound performed diagnosed free abdominal fluid and immediate CT scan diagnosed jejunal artery aneurysm spontaneously rupturing, followed by hypovolaemic shock. Emergent surgery was undertaken, and aneurysmectomy, followed by partial enterectomy with primary anastomosis were performed, because of segmentary jejunal ischaemia. The patient's recovery was unremarkable. High level of suspicion, rapid diagnosis capability and prompt surgical or endovascular intervention, as well as an effective teamwork in the ED are critical to avoid the devastating consequences of ruptured VAAs.

Analysis of clinicopathologic characteristics and prognosis of gastric cancer in young and older patients.

BACKGROUND: The worldwide incidence of gastric cancer is gradually declining, however it remains the fourth highest in cancer incidence and the second leading cause of cancer death. Gastric cancer in young people is a disturbing problem and the routine screening does not include people less than 35 years. The clinicopathological features of gastric carcinoma are said to differ between young and elderly patients and it is thought that the prognosis of this disease is worse for younger patients. It is also suggested that the diagnosis is usually made later or have a more aggressive behaviour. Although, others report that tumor staging and prognosis for young patients is similar to older patients and depends on whether the patients undergo a curative resection. All these data need more investigation and studies. Although Portugal has a high incidence of gastric cancer, no studies have yet been performed comparing the clinicopathologic features and prognosis of young and elderly patients with gastric cancer. AIMS: This study intend to assess whether the clinicopathological features and prognosis of gastric cancer in young patients (YGC) is similar to older ones (OGC). METHODS: Between 2000 and 2005, 406 patients with histological diagnosis of primary gastric cancer, treated in the Departments of Surgery and Oncology at the Centro Hospitalar of Vila Nova de Gaia / Espinho, were regularly followed at least for five years after surgery. These were reviewed retrospectively. Several variables were analyzed in young patients and compared with the elder ones. We used the chi-square and Fisher to evaluate the statistical association between categorical variables and t-test for numeric variables. Survival was estimated by the Kaplan-Meier method and used the log-rank test to assess differences in survival among different subgroups of patients. The criteria for statistical significance was p < 0.05. Data analysis was performed using the SPSS 18. RESULTS AND CONCLUSIONS: With regard to resectability, 78 % of the tumors were resected in the group of younger patients, the surgery more frequently achieved was total gastrectomy with anastomosis in Y of Roux. In the elder group, about 62 % of the tumors were resected and BII gastrectomy was the most frequent surgery. The diffuse adenocarcinoma was the most frequent histological type in younger patients, whereas in older patients was intestinal adenocarcinoma. With regard to the stage in the first group there was a predominance of stages: IA and IV (26.1 %) in the second: IV (25.8 %). The survival for stage III e IV was significantly worst in YGC compared with OGC.

Breast angiosarcoma secondary to phyllodes tumour.

Angiosarcomas are rare malignant tumours that arise from endothelial cells lining vascular channels, representing 0.04% of malignant neoplasms of the breast. Breast angiosarcomas (BAs) were first described by Schmidt in 1887, and may be primary or secondary to the pre-existing conditions. Primary BAs are more common in young women and present as a palpable mass. Secondary BAs arise in older patients, frequently 5-6 years after radiotherapy, and present as a rash.The authors describe the case of an 83-year-old woman with no history of thoracic radiotherapy or surgery. She had been observed for a breast nodule where biopsy revealed phyllodes tumour. The patient refused surgery and returned 2 years later because of an impressive increase in tumour volume and skin ulceration. She underwent mastectomy with local skin flaps. Histopathological result revealed high-grade angiosarcoma of 15×12 cm. There was follow-up without evidence of recurrence, after radiotherapy.

Sporadic exophytic hepatic angiomyolipoma.

Angiomyolipomas are rare mesenchymal tumours consisting of smooth muscle, blood vessels and adipocytes in variable proportions. These tumours are more usually seen in kidneys (incidence 0.3-3%), and the extrarenal location is rare. Since its initial description by Ishak in 1976, only about 200 cases of hepatic angiomyolipomas have been reported. We describe the case of a 59-year-old woman, without tuberous sclerosis, with a 6 cm tumour in hepatic segments II and III, gallbladder with parietal calcification and lithiasis. She was proposed to bisegmentectomy (II and III) and cholecystectomy, which were performed without complications. The pathological examination confirmed the diagnosis of hepatic angiomyolipoma (positive for HMB45 and focally positive for HHF35) and chronic cholecystitis. Although typically benign, the emergence of cases with malignant behaviour--recurrence or distant metastasis--led to a change in attitude towards these lesions, from clinical surveillance to surgical excision, with few exceptions.

Neuroendocrine breast cancer.

Neuroendocrine breast cancer is thought to account for about 1% of all breast cancers. This rare type of breast malignancy is more common in older women and presents as a low-grade, slow-growing cancer. The most definitive markers that indicate neuroendocrine carcinoma are the presence of chromogranin, synaptophysin or neuron-specific enolase, in at least 50% of malignant tumour cells. The authors present a case report of an 83-year-old woman, admitted to their institution with right breast lump. Physical examination, mammography and ultrasonography showed a 2.4 cm nodule, probably a benign lesion (BI-RADS 3). A fine needle aspiration biopsy was performed and revealed proliferative epithelial papillary lesion. She was submitted to excisional biopsy and histology showed endocrine breast cancer well differentiated (G1). Immunohistochemically, tumour cells were positive for synaptophysin. These breast cancers are characterised for their excellent prognosis and conservative treatment is almost always enough to obtain patient cure.

Gastric GIST with synchronous neuroendocrine tumour of the pancreas in a patient without neurofibromatosis type 1.

The gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. These are rare tumours with an incidence of 15 new cases per million per year. The occurrence of neuroendocrine tumours of the pancreas is rare, representing 1-5% of pancreatic cancers, and it is estimated that its incidence does not exceed five to one million. GISTs are common in patients with neurofibromatosis type 1 (NF1); there are few reported cases of synchronous neuroendocrine tumours in these patients and most are pheochromocytomas. The case reports a 64-year-old woman referred to the General Surgery Outpatient for incidental finding of gastric and pancreatic tumours. She underwent a radical subtotal pancreatectomy + partial gastrectomy with jejunal transposition. The pathological examination revealed: gastric GISTs and a well-differentiated neuroendocrine carcinoma of the pancreas. This is the second case published so far of a patient with both tumours and without NF1. Posterior studies must be performed to evaluate if some other genetic disorder is involved in these patients without NF1.

[Bariatric surgery: epidemic of the XXI century]. / Cirurgia bariátrica: do passado ao século XXI.

Obesity is a chronic and endemic disease in developed countries, there is an inverse relationship between the socio-economic level and the prevalence of this disease. Their costs are responsible from 2 to 7% of the total health costs. The prevalence of obesity in the world is so high that the World Health Organization considered this disease as the global epidemic of the XXI century. In Portugal it's estimated that around 16.5% of the population aged over 18 years, has obesity, and due to the morbidity and mortality associated with this pathology, this constitutes a serious public health issue. There are several ancient references to obesity and its consequences, with descriptions of different therapeutic attitudes. But only in 1965 the term bariatric was introduced and consequently the term bariatric surgery. Mason, the father of bariatric surgery, started its history in 1966. Several surgical techniques were subsequently developed, but currently the most used are the gastric bandoplastia, a restrictive surgery, and the gastric bypass, a combined surgery. Today, the bariatric surgery is not limited to the treatment of obesity, but the treatment of a syndrome associated with obesity, allowing a significant improvement in Quality of life of these patients. Thus, it's licit to think that the surgery that allows addressing the epidemic of the XXI century is the surgery of the century, with curative rates, of obesity and their comorbidities, which were never achieved by any other pharmacological treatment.

[Abdominal compartment syndrome: survey on the awareness of Portuguese general surgeons]. / Síndrome de compartimento abdominal: questionário sobre a sensibilidade dos cirurgiões gerais Portugueses.

The Abdominal Compartment Syndrome (ACS) is a clinical entity recognized for over a century, but only recently its risk criteria, monitorization and treatment have been defined by the World Society of the Abdominal Compartment Syndrome (WSACS). The general surgeon's involvement is vital since this syndrome is common in surgical patients and because its treatment may culminate in a laparostomy. 250 questionnaires of 17 questions were distributed among general surgeons attending the XXVIII Portuguese Congress of Surgery. The data were analyzed using SPSS® v16. We received 36,4% (91) of the delivered questionnaires, most of which from male surgeons (63,7%), from central hospitals (75,8%), working 42 h per week (70.3%), whose average of age was 38 years. About half of the respondents received training in Intensive Care Units. All surgeons had already heard about measuring the Intra- abdominal Pressure (IAP), which was being performed at 89% of their hospitals. About 40% of surgeons only admitted intra-abdominal hypertension above 20 mmHg (only 22% indicated the correct value of 12 mmHg). 36,3% of surgeons suggested that a decompressive laparostomy must be carried out for primary ACS if IAP greater then 20 mmHg with new organ failure; 36.3% favoured the "Vacuum-pack"-like system, and 56% only re-operate the patients "as needed". 48,4% of surgeons had already performed decompressive laparostomy, 66% of which had residence training in a ICU (p = 0,005). Respondents also pointed an average mortality related to ACS of 81% without laparostomy, and a reduction to 38,5% after performing that procedure. Only 26% of the surgeons were aware of the WSACS consensus definitions and recommendations, of those, 83% had already performed a laparostomy (P<0,001). It can be concluded that, in spite of recognizing the ACS as a clinical entity, portuguese general surgeons are quite unaware of the WSACS definitions and treatment guidelines, urging the need for its divulgation.

Port--site metastases following bariatric surgery.

Morbid obesity is a huge problem of the twenty-first century, mostly treated by bariatric surgery. The authors report the case of a patient with port site metastases from an unknown rectal adenocarcinoma when bariatric surgery took place. Implants in the site of the subcutaneous access port to the band are problematic, particularly in patients with occult intra-abdominal malignancy. This case underlines the importance of preventive measures to avoid cell implant in port sites in benign such as malignant diseases.

Simultaneous gastric and colic laparoscopic adjustable gastric band migration. Complication of bariatric surgery.

Laparoscopic adjustable gastric banding (LAGB) is a minimally invasive treatment for morbid obesity, which has proved its safety, efficiency, and reversibility. Postoperative complications are rare and might be related with the reservoir, connecting tube, or with the band itself. The lack or unspecificity of clinical signs and symptoms makes the diagnosis of gastric band erosion difficult. The authors present the case of a 54-year-old female, submitted to laparoscopic adjustable gastric banding in April 2004 (BMI = 40 kg/m(2)). During the first year, she reduced her body mass index to 30 and remained stable thereafter. In August 2008, while investigating a moderate colicky abdominal pain, she was submitted to a colonoscopy that showed part of the band inside the transverse colon. Two exams were performed: the abdominal CT scan, which showed the connecting tube inside the transverse colon lumen and the lap band which was apparently well positioned around the stomach, and an upper digestive endoscopy that revealed band migration to the stomach lumen. The patient underwent laparoscopic band removal and closure of both stomach and colon walls, thus treating the fistula. LAGB erosion and migration is a late complication of this surgery that frequently needs surgical removal. LAGB migration to colon or stomach is described in literature isolated. Simultaneous erosion to stomach and colon lumen, with a gastrocolic fistula formation, has never been described before, making this case a unique one.

Validación de un método para predecir etiología en niños con neumonía / Validation of a method to predict the etiology of pneumonia in children

Introducción. Determinar el agente etiológico en niños con neumonía no es simple; requiere técnicasy tiempo que muchas veces no están disponibles. Por lo tanto, la decisión terapéutica inicial suele basarse en elementos clínicos, radiológicos y de laboratorio. El empleo de reglas de predicción clínica que combinan varios de estos elementos puedei ncrementar la capacidad diagnóstica. Objetivo. Evaluar la capacidad diagnóstica de una escala de puntaje para predecir etiología en niños con neumonía (Bacterial Pneumonia Score, BPS).Población, material y método. Estudio observacional ,retrospectivo, de evaluación de una prueba diagnóstica, llevado a cabo entre enero de 2004 ydiciembre de 2006. Se incluyeron pacientes de 1 mesa 15 años de edad hospitalizados por neumonía, condiagnóstico etiológico confirmado (viral o bacteriano).Se excluyeron aquellos con enfermedad pulmonar crónica, cardiopatía congénita, inmunodeficiencia,requerimiento de cuidados intensivos, infeccionesmixtas o falta de diagnóstico etiológico. Se registraron datos del ingreso (edad, temperatura,hemograma y evaluación de radiografía de tórax).Con los datos mencionados se calculó el BPS (intervalo de -3 a 15 puntos), donde un v alor ≥ 4sugiere etiología bacteriana.Resultados. Se incluyeron 82 pacientes con edades entre 1 y 96 meses (79 por ciento etiología viral y 21 por ciento bacteriana). Un valor de BPS ≥ 4 mostró sensibilidad: 94 por ciento, especificidad: 34 por ciento, valor predictivo positivo: 27 por ciento y valor predictivo negativo: 95 por ciento.Conclusión. El BPS presentó una buena capacidad para identificar a la gran mayoría de los niños con infección bacteriana, que requieren antibióticos.

Introduction. Identifying etiology in children with pneumonia requires time and technical resources, not always available. Therefore, the initial management of pneumonia is often based on clinical, laboratory, and/or radiographic data. Clinical prediction rules based on a combination of factors could increase diagnostic accuracy. Objective. To validate the diagnostic accuracy of a clinical prediction rule (Bacterial Pneumonia Score, BPS) to distinguish bacterial from viral pneumonia in children. Population and methods. This observational, diagnostic test evaluation study was performed among January 2004 and December 2006. Children aged 1 month to 15 years old, hospitalized for pneumonia in whom a bacterial or viral etiology was identified were included. Children with chronic pulmonary disease, congenital heart disease, admission to the intensive care unit, underlying immunologic disease, mixed viral and bacterial infection, or inability to identify viral or bacterial pathogens were excluded. Admission data were recorded (age, temperature, WBC count and chest radiograph evaluation). BPS was then calculated (range -3 to 15 points), taking into account that a BPS ≥4 suggests bacterial pneumonia. Results. We included 82 patients aged 1 to 96 months with pneumonia (79% viral and 21% bacterial). A BPS ≥ 4 predicted bacterial pneumonia with sensibility:94%, specificity: 34%, positive predictive value: 27%, and negative predictive value: 95%. Conclusion. The BPS was accurate on identifying most children with bacterial pneumonia, who required antibiotic therapy.

Plasmodium falciparum MAEBL is a unique member of the ebl family.

Malaria is one of the deadliest human diseases and efforts to control it have been difficult due to the protozoan parasites' complex biology. Malaria merozoite invasion of erythrocytes is an essential part of blood-stage infections. The invasion process is mediated by numerous parasite molecules, such as EBA-175, a member of the ebl family of erythrocyte binding proteins. We have identified maebl, an ebl paralogue, in Plasmodium falciparum and found it highly conserved with its orthologues in P. yoelii and P. berghei, but distinct from other Plasmodium ebl. Importantly, the putative MAEBL ligand domains are highly conserved and are similar to AMA-1, but not the consensus DBL ligand domains present in all other ebl. In mature merozoites, MAEBL localized with rhoptry proteins (RhopH2, RAP-1), including surface localization with RhopH2, but not microneme proteins (EBA-175, BAEBL). MAEBL appears as proteolytically processed fragments in P. falciparum parasites. The amino cysteine-rich ligand domains were present primarily in culture supernatants, while the carboxyl cysteine-rich domain adjacent to the transmembrane domain was preferentially isolated from Triton X-100 extracted fractions. These data indicate that the primary structure of maebl is highly conserved among Plasmodium species, while its characteristics demonstrate a function unique among the ebl proteins.