Cecum perforation in intestinal malrotation setting in a patient with chromosome 12p deletion syndrome: A case report.

INTRODUCTION: Intestinal malrotation results from failure of the normal gut rotation during embryological development. It is usually diagnosed in early childhood when it becomes symptomatic. Aetiology of intestinal malrotation has been scarcely addressed although relevant roles have been attributed to a few genes involved in gastrointestinal formation and association with certain syndromes has been suggested. PRESENTATION OF CASE: We describe the case of a 23-year-old woman with 12p deletion syndrome who presented with clinical symptoms of occlusion to the emergency department. Analytically, an elevation of inflammatory parameters was confirmed and imaging revealed pneumoperitoneum originated on cecum perforation. The patient was submitted to surgery with favorable evolution. DISCUSSION: Clinical manifestation of intestinal malrotation is uncommon in the adult population but can have severe consequences if not diagnosed early. The abnormal positioning of the duodenojejunal loop compressed by Ladd's bands, can lead to obstruction and ischemia. Surgery via Ladd's procedure commonly applies and elective treatment may prevent added morbidity. Intestinal malrotation has been associated to certain syndromes but no prior association to chromosome 12p deletion has been described. Occlusion in a patient with 12p chromosome deletion should raise prompt suspicion for intestinal malrotation. Moreover, diagnosis of 12p chromosome deletion should increase attention towards gastrointestinal changes since elective surgery may diminish morbidity. CONCLUSION: Intestinal malrotation results from abnormal embryological rotation of the midgut and is associated with certain syndromes. This paper firstly associates intestinal malrotation to chromosome 12p deletion. The possibility to address it electively may prevent morbidity in patients with this syndrome.

Effect of Akt activation and experimental pharmacological inhibition on responses to neoadjuvant chemoradiotherapy in rectal cancer.

BACKGROUND: Neoadjuvant chemoradiotherapy (CRT) is one of the preferred initial treatment strategies for locally advanced rectal cancer. Responses are variable, and most patients still require surgery. The aim of this study was to identify molecular mechanisms determining poor response to CRT. METHODS: Global gene expression and pathway enrichment were assessed in pretreatment biopsies from patients with non-metastatic cT2-4 N0-2 rectal cancer within 7 cm of the anal verge. Downstream Akt activation was assessed in an independent set of pretreatment biopsies and in colorectal cancer cell lines using immunohistochemistry and western blot respectively. The radiosensitizing effects of the Akt inhibitor MK2206 were assessed using clonogenic assays and xenografts in immunodeficient mice. RESULTS: A total of 350 differentially expressed genes were identified, of which 123 were upregulated and 199 downregulated in tumours from poor responders. Mitochondrial oxidative phosphorylation (P < 0·001) and phosphatidylinositol signalling pathways (P < 0·050) were identified as significantly enriched pathways among the set of differentially expressed genes. Deregulation of both pathways is known to result in Akt activation, and high immunoexpression of phosphorylated Akt S473 was observed among patients with a poor histological response (tumour regression grade 0-2) to CRT (75 per cent versus 48 per cent in those with a good or complete response; P = 0·016). Akt activation was also confirmed in the radioresistant cell line SW480, and a 50 per cent improvement in sensitivity to CRT was observed in vitro and in vivo when SW480 cells were exposed to the Akt inhibitor MK2206 in combination with radiation and 5-fluorouracil. CONCLUSION: Akt activation is a key event in the response to CRT. Pharmacological inhibition of Akt activation may enhance the effects of CRT. Surgical relevance Organ preservation is an attractive alternative in rectal cancer management following neoadjuvant chemoradiotherapy (CRT) to avoid the morbidity of radical surgery. Molecular steps associated with tumour response to CRT may provide a useful tool for the identification of patients who are candidates for no immediate surgery. In this study, tumours resistant to CRT were more likely to have activation of specific genetic pathways that result in phosphorylated Akt (pAkt) activation. Pretreatment biopsy tissues with high immunoexpression of pAkt were more likely to exhibit a poor histological response to CRT. In addition, the introduction of a pAkt inhibitor to cancer cell lines in vitro and in vivo led to a significant improvement in sensitivity to CRT. Identification of pAkt-activated tumours may thus allow the identification of poor responders to CRT. In addition, the concomitant use of pAkt inhibitors to increase sensitivity to CRT in patients with rectal cancer may constitute an interesting strategy for increasing the chance of a complete response to treatment and organ preservation.

Identificação de loci microssatélites com potencial de amplificação na espécie de Peixe-Rei (Odontesthes humensis) / Identification of microsatellite loci with amplification potential in "pejerrey" (Odontesthes humensis)

In this work, 25,806 potentially amplifiable microsatellite loci (PAL) were identified in pejerrey, (Odontesthes humensis), with 21% of dinucleotide, 22% trinucleotide, 37% tetranucleotide, 13% pentanucleotide and 7% hexanucleotide. Of the total loci, 167 were classified as "Best PAL", more likely to be variables in populations. The results show that with a small coverage of the genome it was possible to identify a large number of microsatellite loci...

Fitase na dieta de alevinos de carpa húngara: desempenho e características de carcaça / Phytase in diet of common carp fingerlings: produtive performance and carcass traits

Foram utilizados 240 alevinos de carpa húngara, com peso médio de 3,42±0,32g, distribuídos em delineamento inteiramente ao acaso, com quatro tratamentos e quatro repetições. A dieta basal foi formulada com ingredientes de origem vegetal (36 por cento de proteína bruta e 3.200kcal de energia digestível). Os tratamentos corresponderam a quatro níveis de fitase ativa (UF) por kg na dieta: zero (controle), 500, 1000 e 1500UF/kg. A cada 15 dias, foi realizada uma biometria e, ao término do período experimental (45 dias), 5 por cento dos animais foram eutanasiados para determinação do rendimento de carcaça e composição químico-bromatológica. Os parâmetros de desempenho avaliados foram: peso final, ganho de peso, comprimento total, taxa de crescimento específico e sobrevivência. A suplementação de fitase não influiu no desempenho produtivo, entretanto melhorou significativamente as características da carcaça.

A total of 240 fingerlings, with initial average weight 3.42±0.32g, were distributed in a completely randomized experimental design, with four treatments and four replicates. Basal diet consisted of vegetal ingredients (36 percent crude protein and 3,220kcal of digestible energy). Treatments corresponded to four levels of active phytase (UF) per kg of diet: zero (control), 500, 1,000, and 1,500. Every 15 days, a biometry was made and at the end of the experimental period (45 days) 5 percent of animals were euthanized to determine carcass yield and chemical-bromatologic composition. The following variables were evaluated: final weight, weight gain, total length, specific growth rate, and survial. There was no effect of phytase on productive performance; however, it significantly improved carcass characteristics.

A comparative study between two central veins for the introduction of totally implantable venous access devices in 1201 cancer patients.

INTRODUCTION AND AIMS: The Subclavian vein has been traditionally the vein of choice for central venous catheterization by general surgeons. Alternative settings for the introduction of totally implantable venous access devices (TIVAD) and the search for lower rates of morbidity led to the choice of other central veins. This study compares two different venous accesses, the subclavian (SC) versus the internal jugular (IJ), in terms of early and late morbidity. PATIENTS AND METHODS: This is a prospective, non-randomized, observational, uni-institutional (tertiary cancer centre) study. From March 2003 to March 2006, 1231 TIVADs were placed (1201 patients), in an ambulatory operating room, under vital signs and EKG monitoring, using local anaesthesia and without perioperative radiological control. RESULTS: Of the 1231 TIVAD, 617 were inserted via the SC and 614 via the IJ vein. The two groups (SC vs. IJ) were comparable as to general patient characteristics. Immediate complications were more frequent in the SC than in the IJ approach (respectively, 5.0% vs. 1.5%; p<0.001); Catheter malposition occurred in 2.3% when using the SC vein and in 0.2% for the IJ (p=0.001). Long term morbidity was also more frequent in the SC than in the IJ group (respectively, 15.8%, 87/551, vs. 7.6%, 39/512; p<0.001). Venous thrombosis developed in 2.0% of patients with an SC TIVAD as compared to 0.6% with an IJ TIVAD (p=0.044). Catheter malfunction was significantly dependent on the vein used: SC - 9.4% vs. IJ - 4.3% (p=0.001). CONCLUSIONS: Our results support the preferential use of the Internal Jugular vein for the insertion of TIVAD.

Aspiracao de corpo estranho em adulto / Foreign-body aspiration in adult

A obstrucao de via aerea proximal levando a asfixia com risco de vida imediato e o evento mais importante na aspiracao de corpo estranho. Contudo, pequenos corpos estranhos que atravessam a laringe sao geralmente assintomaticos no inicio e provocam sintomas respiratorios semanas ou anos antes do diagnostico. Nos descrevemos tres pacientes com evolucao clinica diferente e revisamos tecnicas de diagnostico e abordagens terapeuticas.

[Foreign-body aspiration in adults]. / Aspiração de corpo estranho em adulto.

Proximal airway obstruction and acute life-threatening asphyxia is the most important complication of foreign body aspiration. Small foreign bodies that transverse the larynx may be initially asymptomatic appearing serious respiratory disturbances only later. Three patients with different clinical evolutions are reported and the diagnostic and therapeutic approaches, discussed.

Escleroceratouveite na presenca de tuberculose ganglionar. / Ganglionic tuberculosis and sclerokeratouveitis

O trabalho ora apresentado, estuda a correlacao clinica da escleroceratouveite com o achado histologico de um ganglio cervical, no qual se evidenciou uma forma granulomatosa, com areas de caseificacao sugestiva de tuberculose.Aborda tambem a importancia da avaliacao do PPD en nosso meio, assim como o tratamento a ser conduzido nestes casos

Fotocoagulacao com laser argonio para tratamento da recorrencia pos-operatoria do pterigio. / Photocoagulation with argon laser for the treatment of postoperative recurrence of pterygium

Tratou-se, por fotocoagulacao por laser argonio, 11 olhos que apresentavam sinais biomicroscopicos de recorrencia, 5 a 110 dias apos a cirurgia para ressecao de pterigio. Constatou-se recidiva em todos os olhos tratados. Conclui-se pela ineficacia do metodo utilizado

Tumores malignos de rim - estudo de 42 casos. / Malignant neoplasms of the kidney: study of 42 cases

Os autores apresentam 42 casos de tumores malignos de rim, atendidos no Servico de Urologia do Hospital da Base do Distrito Federal, na decada de 1970. Tecem comentarios sobre o quadro clinico, metodos diagnosticos, tratamentos realizados, principalmente analisando os varios aspectos da conduta cirurgica. Relatam o diagnostico histopatologico e o acompanhamento de alguns casos