Multiple endocrine neoplasia type 2A: case report.

Multiple endocrine neoplasia type 2A (MEN 2A) is a complex autosomal dominant inherited syndrome characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and primary parathyroid hyperplasia. In patients with only one or two clinical features, identification of a germline RET(REarranged in Transfection) mutation or the identification of the clinical features of MEN 2A in other first degree relatives is required to make the diagnosis. We present the case of a family with MEN 2A syndrome confirmed by genetic analysis which identified RET gene mutation in 634 codon in father - DV - aged 48 years and also in daughter DM -aged 20 years. The specific feature in this case is that the index case was the daughter (diagnosed and operated for pheochromocytoma at the age of 19 years), the father being diagnosed later with medullary thyroid carcinoma by mutational screening in all family members. This family supports the phenomenon of anticipation, in which severity increases and the age of onset decreases in successive generations, the syndrome being discovered earlier and with a worse prognostic in the daughter.

Technical performance of colonoscopy -- multicenter study in university and non-university centers of Romania.

UNLABELLED: The aim of the paper was to evaluate the national availability of colonoscopy and the quality parameters of this procedure in our country. MATERIAL AND METHOD: During a 6 months period (01.07- 31.12.2009), we performed a prospective multicenter study in which 76 centers were invited to respond to a questionnaire regarding colonoscopy, 39 centers agreeing to participate. We assessed: the number of colonoscopies, the number of total colonoscopies and the causes of incomplete colonoscopies. RESULTS: During the study period, 16,083 colonoscopies were performed, 12,294 (76.4%) of them total colonoscopies. In 1,191 cases, stenosis was the cause of incomplete colonoscopy. If we consider this an objective reason for an incomplete colonoscopy, there were 12,294 total colonoscopies (82.4%). Comparing university centers with non-university ones, the proportion of total colonoscopies was 10,400/12,475 (83.4%) vs. 1,894/2,417 (78.4%) (p less then 0.0001). However, comparing the present study with previous ones, performed in 2003 and 2007, the proportion of total colonoscopies increased from 70.5% to 76.9% and 82.4% respectively (2003 vs. 2007 p less then 0.0001; 2007 vs. 2009 p less then 0.0001), while the quality difference between university and non-university hospitals persisted. CONCLUSIONS: the quality of colonoscopy in Romania increased in the last 5 years, while the quality difference between university and non-university hospitals persisted.

A rare cause of acute massive lower gastrointestinal bleeding.

Even if lower gastrointestinal bleeding (LGIB) can present as trivial haematochezia, massive hemorrhage with shock may occur. Acute massive LGIB is defined as bleeding of recent duration that originates beyond the ligament of Treitz and encompasses: passage of a large volume of red or maroon blood through the rectum, haemodynamic instability and shock, initial decrease in haematocrit level of 6 g/dL or less, transfusion of at least 2 U of packed red blood cells, bleeding that continues for 3 days or significant rebleeding in 1 week. This report presents the case of a 58-year-old man with massive LGI bleeding. Colonoscopy was performed in emergency with a poor colonic preparation, but the examiner fortunately and with difficulty managed to identify the source of the haemorrhage- a Dieulafoy's lesion of the right colon. The bleeding was successfully stopped permanently by injecting sclerosing agents into the spurting vessel. We have preferred colonoscopy as our first choice of investigation due to the facile availability and the opportunity of endoscopic haemostasis in case of finding the source of bleeding. Angiography was planned in case of failure of the first method. The definition, clinical presentation, and treatment of Dieulafoy's lesion are further discussed.

[Children orbital floor fracture: retrospective study, about 34 cases]. / Fracture du plancher de l'orbite chez l'enfant, étude rétrospective à propos de 34 cas.

INTRODUCTION: Orbital fractures represent 30 % of children facial fractures. Nausea and vomiting are more predictive of entrapment than local trauma stigmatisms. Entrapment and diplopia are more frequent in adults. Delay for surgery is unclear in literature varying from 6 hours to days. The aim of this study is to summarise the aspects of orbital floor fractures in children with regard to clinical and radiological presentation, management, and outcomes. PATIENTS AND METHODS: We conducted a retrospective study including 34 children presenting isolated orbital floor fracture. Clinical, radiological, ophthalmological, surgical data and outcomes were analyzed. RESULTS: Mean age was 9.4 years. In 15% of cases, no local stigmatism of trauma was present. Entrapment fracture was the most frequent, with 81% of fat or muscles entrapment. In all, 27% of the patient had residual diplopia. Residual diplopia developed after trap-door fracture with muscle entrapment and a more than 24 hours delay for surgery. CONCLUSION: Trap-door fracture is frequent in childhood population. Clinical diagnosis can be difficult. However, surgical treatment should be considered before 24 hours to avoid complication as residual diplopia.

[Cutaneous and mucosal graft for labial defect after animal bite in children]. / Greffe composite cutanéo-muqueuse pour la reconstruction labiale des pertes de substances par morsure.

Animal bite is frequently involved in children labial defect. The need for labial surgical repair is to restore anatomy and function. Local and regional flap is usually described for labial reconstructions. Few authors recommend mucosal and skin graft. In the present study, we described skin and mucosal graft for reconstruction of complex labial defect. This surgical technique can be applied in very young children with reasonable expectations of excellent functional and aesthetic outcome.

[Facial dog bite injuries in children: retrospective study of 77 cases]. / Morsures de chien à la face chez l'enfant: étude rétrospective de 77 cas.

INTRODUCTION: The face is the area most vulnerable for dog bites in children. Surgical management is an emergency to prevent infection, functional and aesthetic outcomes. The aim of this study was to define a new gravity scale, and to determine a prevention policy. PATIENTS AND METHODS: In our maxillofacial and plastic surgery department, we conducted a retrospective study from 2002 to 2010, including 77 children under 16 years old, victims of facial dog bite. We analyzed epidemiological, clinical data, surgical outcomes. RESULTS: The mean age was 5.36 years. Dogs were principally represented by class I and II dogs; 27,7% of them had ever bitten before. In almost all the cases, the dogs belong to the family or closers. Twenty-one percent of children belong to an unfavourable social environment; 71.43% of dog bites interested the central area of the face. The bites were deep in 77% of cases with amputation or extensive loss of substance in 31% of cases. The healing time was 10.54 months. Nearly a third of patients required several surgeries; 41.56% of patients had aesthetic and functional sequelae; 35.1% of children had psychological problems afterward. CONCLUSION: Facial children dog bites require a multidisciplinary approach, and a long-term follow-up. We propose a new classification of dog bite severity, more appropriate to the face.

[Endoluminal fundoplication (ELF) with EsophyX2 for gastroesophageal reflux desease (GERD)]. / Fundoplicatura endoluminala (FEL) cu esophyX2 in terapia bolii de reflux gastroesofagian (BRGE).

GERD is a frequent, evolving, life quality-impairing disease. In addition to medication and laparoscopic fundoplication we have recently added endoluminal fundoplication (ELF). The EsophyX2 is currently the most efficient device for endoluminal fundoplication. This device produces a partial, anterior valve, redesigning the antireflux barrier and the Hiss angle geometry, thus improving the activity of the lower esophageal sphincter (LES). This paper presents the operative technique, the patient selection criteria and published results. It has been shown that this technique is both secure, reproductible and effective in patients followed for 12-24 months: life-quality improvement, decreased acid exposure, suppression of antiacids, reduced hospitalization and recovery. Compared to antiacid therapy, ELF is far more effective and less invasive than laparoscopic fundoplication. For the moment we have no long-term results. ELF with EsophyX2 is a minimally invasive and efficient therapy for GERD that requires further evaluation.

[Esophageal stenting: techniques and effectiveness]. / Stentarea esofagului: tehnica si eficienta.

OBJECTIVE: The purpose of this study is a prospective evaluation of the ease of implantation, long-term patency, indication of good oesophageal stent placement and related complications in patients due to obstructive malignant diseases. The clinical efficacy of these techniques is also examined. MATERIALS AND METHODS: A total of 123 patients with severe oesophageal obstruction diagnosed between 1999 and 2008 were selected for stent placement. The following stents were used: Wallstent; Ultraflex; Medwark; Endotechnik; Wilson Cook (plastic); and Z stents. RESULTS: The stent was successfully placed in the diseased oesophagus in all 123 patients. The stent implantation was more than 95% effective but the stent patency and the patients' life quality was low due to both progression of the disease and stent performance. Stents did increase life expectancy but performance was limited. CONCLUSIONS: Stent placement is safe and effective for the primary palliation of patients with inoperable malignant oesophageal obstruction. Even if the stent price is relatively high the costs are offset due to earlier patient discharged from hospital. Stent and patient related problems persist and may require additional intervention. New innovations in stent design are needed to reduce the risk of stent-related complications.

[Management for pseudoaneurysm of cystic artery with an arterio-biliary fistula after laparoscopic cholecystectomy: a rare case of hemobilia]. / Managementul pseudoanevrismului de artera cistica cu fistula arterio-biliara dupa colecistectomie laparoscopica: cauza rara de hemobilie.

Although laparoscopic cholecystectomy is considered to be the gold standard for treatment for symptomatic cholelithiasis, it is associated with an increased risk of biliary and vascular injury compared to the traditional technique. Massive hemobilia is a rare but potentially life-threatening cause of upper gastrointestinal hemorrhage. Arterio-biliary fistula is an uncommon cause of hemobilia. We describe a case of cystic artery pseudo-aneurysm causing arterio-biliary fistula and presenting as severe melaena and cholangitis that occurred 7 months after laparoscopic cholecystectomy. Gastroduodenoscopy failed to establish the exact source of bleeding and hepatic artery angiography and selective embolization of the pseudo-aneurysm successfully controlled the bleeding. Pseudo-aneurysm of the hepatic artery is mostly iatrogenic due to biliary intervention, as demonstrated in this case. Transarterial embolization is considered the first line of intervention to stop the bleeding for most causes of hemobilia. Hemobilia is a rare complication that should be considered when managing patients with bleeding or jaundice even several months after laparoscopic cholecystectomy.

[When and what will we do with the descendants of colorectal cancer patients? Case study and research project presentation]. / Când si ce vom face cu descendentii pacientilor cu cancer colo-rectal? Studiu de caz si prezentarea unui proiect de cercetare.

The polygenic etiology of familial colorectal cancer and other digestive tract cancers has been acknowledged and therefore a study subject by means of various techniques such comparative genomic hybridization, serial genetic analysis (APC, CGH) or DNA arrays. Our paper is the first presentation of a CNCSIS research project named: "Analiza unor factori moleculari implicati in stabilirea riscului statistic de îmbolnavire la descendentii probanzilor cu cancer rectocolonic" and also presents the case of a 12 members family in which 3 had already been diagnosed with colonic or rectal cancer. The APC gene methylation profile was studied in order to establish both the gene implication in cancer development within the family and the risk of colorectal cancer for the healthy family members. The paper shows the present means of interaction between the surgeon and the familial colorectal cancer cases and the research project advocates for the necessity of a genetic counseling network to which such cases should be referred.

[Progress of surgical treatment in the last 10 years. Comparative study of surgical interventions performed between 1993-1995 versus between 2003-2005]. / Evolutia terapiei chirurgicale în ultima decada. Studiu comparativ al interventiilor 1993-1995 vs. 2003-2005.

In the last decade of the past century, as laparoscopy was introduced in our clinic in 1993, minimal access therapy (MAT--endoscopy, angiography, interventional imagery) had a positive and constant evolution. Our paper retrospectively evaluates the interventions performed between 2003-2005 (group A) compared to those performed between 1993-1995 (group B). We observed a 17.08% (7056 vs 6026 interventions/year) raise in the total number of interventions in group A, with a significant 66% decrease (195 vs. 588 interventions/year) of interventions for gastro-duodenal ulcer and a 18% decrease (1211 vs 1490 interventions/year) of appendectomies, but a 63% increase (1560 vs. 955 interventions/year) of cholecystectomies, 53% increase (1186 vs. 773 interventions/year) of interventions for parietal defects and a 62% (626 vs. 325 interventions/year) increase of oncological interventions. The most frequent interventions were, in the order of frequencies: cholecystectomies (79.8% laparoscopically), appendectomies, interventions for hernia and eventrations, oncological operations and trauma surgery. The incidence of laparoscopic interventions was greater in group A, counting for 19% of the total number of interventions. In group A were performed 2334 endoscopies, 149 diagnostic and therapeutic angiographies. Postoperative mortality dropped with 29.64% and hospital stay dropped to 4.7 days. We believe that the incidence of MAT should rise, by performing more laparoscopic interventions and this change should lead to a revision of the surgical residents training program.

Variable MLH1 promoter methylation patterns in endometrial carcinomas of endometrioid subtype lacking DNA mismatch repair.

A lack of DNA mismatch repair (MMR) is observed in approximately 20% of sporadic endometrial tumors, but few of these tumors have mutations in MSH2 or MLH1, the two major MMR genes. Promoter methylation is an important means of silencing transcription, and methylation of the MLH1 promoter has been reported as an important cause of MLH1 inactivation in endometrial cancers. Studies have shown that specific CpG sites within the MLH1 gene promoter are critical for gene expression, but other studies have shown that methylation of both more proximal and more distal sequences are important for MLH1 gene regulation. Here, we used a microsatellite instability assay and MLH1 immunohistochemistry to identify a subset of endometrial carcinomas of the endometrioid subtype lacking MMR. Sequencing of bisulphite-treated DNA from these tumors determined the methylation status of 42 CpG sites across the MLH1 promoter (spanning -204 to -702 bp upstream of the transcriptional start). Unlike the 4 normal endometrial samples that were unmethylated, 17 of 21 MMR-deficient samples showed complete or near-complete methylation and the remaining 4 MMR-deficient samples had a considerable degree of methylation (approximately 50% or greater). Five tumors demonstrated isolated unmethylated CpG sites, despite methylation throughout the rest of the promoter. This underscores the importance of examining the methylation status of at least several CpG sites within the promoter as methylation is not always consistent across DNA. Overall, our findings support the model that density of methylation of CpG sites across the MLH1 promoter is important in determining gene expression.

Clinical impact of cachexia on survival and outcome of cancer patients.

Approximately one half of all cancer patients experience a complex metabolic status involving progressive exhaustion of adipose and skeletal muscle tissue. This condition, known as cachexia, is responsible for more than 20% of the overall deaths in cancer patients. Although its main mechanisms remain unknown, several hypotheses have been proposed. One of the pathogenic mechanisms involves leptin and hypothalamic neuropeptide-containing pathways. Orexigenic and anorexigenic neuropeptides are down-regulated respectively upregulated as a result of cancer. Other pathogenic theories consider tumour derived factors, such as LMF (Lipid Mobilising Factor) and PIF (Proteolysis-inducing Factor), to be responsible for the weight losing pattern of cancer patients via activation of various catabolic pathways (e.g. ubiquitin-proteasome proteolytic-pathway, etc.). Despite the controversial discussion of cachexia-inducing mechanisms it is clear that proinflammatory cytokines, such as TNFalpha, IFNgamma, IL-1, IL-6 and IL-8, are linked to all pathways that induce cachexia. Although only limited treatment exists for patients with cancer cachexia, recent studies with eicosapaentanoic acid showed promising effects in reversing weight losing pattern of cachectic patients. Cytokine targeted monoclonal antibodies, cytokine traps and genetic therapies are also evaluated for future therapeutic strategies.

[Peroral cholangioscopy]. / Colangioscopia perorala.

The aim of this study was to present peroral cholangioscopic method, their technique, indications, contraindications, the advantages and disadvantages of this method. Peroral cholangioscopy is associated with ERCP and was developed in the last two decades by development of "mother & baby" endoscopic system. In same mode with percutaneous cholangioscopy or laparoscopic cholangioscopy, peroral cholangioscopy have an important role in diagnosis and therapy of common bile duct diseases. In 2001-2002 the authors have perform six peroral cholangioscopy for diagnosis and therapy (nonspecific radiological findings on ERCP) and in five cases, they have found choledochal lithiasis which was resolved by this way. In one case has not found any pathology. By their efficiency with a low rate of specific complications, peroral cholangioscopy is now an appropriate method in diagnosis and therapy of common bile duct disease.

[Applied anatomy of the distal "vinculum tendinis" in the fetlock tendon sheath of the hindlimb in cattle]. / Zur angewandten Anatomie des distalen "Vinculum tendinis" in der Fesselbeugesehnenscheide der Beckengliedmasse des Rindes.

A relatively thick (diameter approximately 2 mm), ropelike (length ca. 20 mm) and elastic "Vinculum tendinis" connects--within the fetlock tendon sheath--the dorsal side of the deep digital flexor tendon with the dorsal part of the Manica flexoria (the communicating band of the Musculus interosseous medius to the superficial digital flexor tendon). The extensive fetlock tendon sheath can be involved in diseases such as aseptic and septic inflammations. Spreading of these inflammations makes in some of these cases the partial resection of the tendon of the deep digital flexor muscle and the cutting of these Vincula necessary. The results of this contribution, collected from 60 hindlimbs of adult bovines show variations in number, length, diameter and extent and the inner structure with blood vessels and nerves.

Alveolar mucosal approach to the canine nasal cavity.

A nine-year-old, intact female Afghan hound was presented for evaluation of an intermittent, mucopurulent, unilateral nasal discharge with a three-year duration. Radiographs showed the ipsilateral canine tooth within the rostral nasal cavity. The tooth was removed through an alveolar mucosal rhinotomy. There has been no recurrence of the nasal discharge or complications associated with the surgical procedure during the 20-month follow-up period.

An anatomical study of the arteries feeding the triceps brachii muscle of swine.

The arterial vascular network of the porcine triceps brachii muscle (TBM) (an extensor muscle to the forearm) was studied and compared to another extensor muscle (the soleus muscle) of small rodents. The left axillary arteries (LAA) of nine Yucatan miniature swine were perfused with latex material to reveal the organization of the arterial blood supply to the TBM. Blood is supplied to the TBM by the main branches of the LAA. Some of the branches end in one of the four heads of the TBM. Other branches continue to bifurcate further and to supply blood to adjacent muscles. The feed arteries (FAs) arise as side-branches at regular distances from the branches of the LAA. The mean number of FAs per TBM was 109.7 and the mean diameter was 388 microns. The distribution of FAs to the muscle area is heterogenous. Most FAs penetrate the epimysium of the TBM on its medial aspect. It appears that more FAs come out of the branches of LAA that end in the TBM as compared to arteries which continue to bifurcate away from TBM. FA diameters were in the range of 300 microns. This study is the first necessary step towards understanding the distribution of oxygen and nutrients to the porcine skeletal muscle. It reveals the presence of a more complicated vascular network than that observed previously in small laboratory animals.

[Long-term evolution of a T-tube in the common bile duct]. / Evolutia pe termen lung a tubului Kehr în calea biliara principala.

We present the case of an elderly and frail woman, admitted for obstructive jaundice 9 years after cholecystectomy, lithotomy and T-tube drainage. The presence of a T-tube remnant in the common bile duct was suggested by imaging techniques, along with a megacholedocus. Because of the risks associated with advanced biliary cirrhosis, the endoscopic retrieval and lithotripsy was the first therapeutical attempt but failed. Lithotomy and cholangio-jejunostomy by open surgery were followed by a surprising favourable course.

Subtotal colectomy and ileocolonic anastomosis in a Vietnamese pot-bellied pig with idiopathic megacolon.

A 7-month-old sexually intact female Vietnamese pot-bellied pig was evaluated because of constipation. On abdominal palpation, a hard tubular structure was palpated in the middle of the abdomen. Abdominal radiography revealed loops of intestine that were markedly distended with ingesta, consistent with obstructive intestinal disease. On exploratory celiotomy, a massively distended cecum and spiral colon were found. A subtotal colectomy, with a side-to-side ileocolonic anastomosis, was performed. The cause of the megacolon was not discovered. The pig did well following surgery and eventually defecated normally following an initial period of diarrhea. To our knowledge, this is the first report of therapeutic removal of a substantial portion of the large intestine in swine. Our decisions concerning the pig of this report were based largely on our knowledge of megacolon in cats. The outcome for this pig indicates that subtotal colectomy along with removal of the cecum and ileocecal valve can be used to successfully treat idiopathic megacolon in Vietnamese pot-bellied pigs.