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Biomedical subjects

D Fuentes

Publications and source records attributed to D Fuentes.

At least 19 recordsLinked to original sources

MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1*0501/DQB1*0201.

BACKGROUND AND AIMS: Coeliac disease (CD) is an enteropathic disorder characterised by a strong association with major histocompatibility complex (MHC) heterodimer HLA-DQ2. It has been suggested that other HLA class I genes in combination with DQ may also contribute to CD susceptibility. The aim of this study was to investigate whether other candidate genes modify the risk of developing different clinical forms of CD. PATIENTS AND METHODS: We studied 133 Spanish coeliac patients, divided according to their clinical presentation into typical and atypical groups, and 116 healthy controls. All were typed by polymerase chain reaction-sequence specific primers (PCR-SSP) at HLA-B, DRB1, DQA1, and DQB1 loci and for exon 5 of the MHC class I chain related gene A (MICA). RESULTS: No differences were found in the frequency of the DQA1*0501/DQB1*0201 heterodimer in either group. The risk of typical CD was significantly associated with the DR7/DQ2 haplotype (p(c)=0.02, odds ratio (OR)=3.4, ethiological fraction (EF)=0.4). Extended haplotype (EH) 8.1 (B8/DR3/DQ2) was found to be overrepresented in the atypical form compared with the typical form (p(c)=0.001, OR=4.19, EF=0.56). The trinucleotide repeat polymorphism MICA-A5.1 was found to be increased in the atypical group of patients compared with the typical group (p(c)=0.00006, OR=8.63, EF=0.81). This association was independent of linkage disequilibrium with EH8.1 as this was also found to be increased in EH8.1 negative atypical patients compared with the typical group (p(c)=0.004, OR=6.66, EF=0.56). CONCLUSIONS: Our results showed that the risk of developing typical forms of CD was associated with DR7/DQ2 haplotype, and the presence of B8/DR3/DQ2 was significantly increased in atypical patients. In these, the MICA-A5.1 allele confers an additive effect to the DR3/DQ2 haplotype that may modulate the development of CD.

Adult↗

Variation at the Angiotensin-converting enzyme and endothelial nitric oxide synthase genes is associated with the risk of esophageal varices among patients with alcoholic cirrhosis.

Esophageal varices are a frequent complication among patients with liver cirrhosis. Nitric oxide and other vasoactive molecules regulate the vascular tone in both the liver microcirculation and the systemic and splanchnic circulation. Several genes that encode proteins involved in the maintenance of vascular tone, such as the endothelial-constitutive nitric oxide synthase (ecNOS), the angiotensinogen (AGT), the angiotensin-converting enzyme (ACE), and the angiotensin II receptor type 1 (AT1R) are polymorphic, and these polymorphisms have been associated with several cardiovascular diseases. Our aim was to define a possible role for DNA polymorphisms at these genes in the risk of developing esophageal varices among patients with alcoholic cirrhosis. We analyzed 145 male patients with liver cirrhosis. Patients and 200 healthy controls were genotyped by polymerase chain reaction for the ACE-I/D, the AGT-M235T, the AT1R-A1166C, and the ecNOS-4/5 (intron 4) polymorphisms. Ninety-five patients had varices and 50 did not show this complication. Carriers of the ACE-I allele (ID + II genotypes) were at a significantly higher frequency among patients with varices (p = 0.013). Patients without varices had a higher frequency of the ecNOS-4 allele compared with patients with varices (p = 0.026). ACE-I carriers + ecNOS-55 were at a significantly higher frequency (p = 0.0012; odds ratio = 3.19; 95% CI = 1.55-6.55) among patients with varices (51 of 95, 54%) compared with patients without (18 of 50, 36%). Allele and genotype frequencies for the AGT and AT1R polymorphisms did not differ between the two groups. The genotypes associated with an increased risk for varices have been linked to higher plasma levels of nitric oxide and reduced levels of ACE. These genotypes could have a vasodilatory effect in the systemic and splanchnic circulation, thus favoring the development of portocollaterals.

Adult↗

Traumatic occlusion of the renal artery: helical CT diagnosis.

OBJECTIVE: Eight patients with traumatic occlusion of the renal artery were retrospectively reviewed to assess the diagnostic contribution of helical CT and to determine whether the information it provides can replace angiographic data in patient evaluations. MATERIALS AND METHODS: We reviewed the medical records and imaging studies of eight patients with renal artery occlusion caused by blunt abdominal trauma. All patients were scanned using a helical protocol that included an 8-mm collimation with a 1:1 pitch and a monophasic IV injection of iodinated contrast material. The timing of the imaging studies, the type of surgical treatment, and the patient outcome were tabulated. Evaluated data included the location of the occlusion as depicted by helical CT and angiography, whether a CT nephrogram was obtained, the presence of a peripheral rim effect, and the nature of associated injuries. RESULTS: Helical CT revealed occlusion of a main renal artery in seven patients and obstruction of a main branch in one patient. In all cases the occlusion occurred within the proximal 2 cm of the renal artery. In five patients, the findings were depicted equally well by helical CT and angiography. In two patients, the helical CT findings were confirmed by surgery and autopsy, respectively. Significant associated injuries were revealed in seven patients. The CT nephrogram was absent in seven patients and partially present in one patient. The peripheral rim effect was seen in six patients. CONCLUSION: Basic contrast-enhanced helical CT can reliably reveal traumatic occlusion of the renal artery and depict the level of obstruction.

Abdominal Injuries↗

[Diagnostic accuracy of fine needle aspiration cytology guided by ultrasonography in intra-abdominal and retroperitoneal lesions].

UNLABELLED: Evaluation of the fine needle aspiration cytology guided by ultrasonography in the diagnosis of abdominal and retroperitoneal tumors. DESIGN: Transversal study of diagnostic standard-criterion test. PLACE: Ultrasonographic Unity Digestive Disease Department. Hospital Oncológico Padre Machado. SAMPLE: 98 patients with intraabdominal and retroperitoneal lesions. INTERVENTION: Fine needle aspiration cytology guided by Ultrasonography. INDICE TEST: Laparoscopy and/or laparotomy. MEASUREMENTS: Estimation of sensibility (S), Specificity (E), Efficacy (Ef), positive predictive value (VPP), negative predictive value (VPN), measure of false positives (TFP) and measure of false negatives (TFN) by diagnosis method. RESULTS: VP: 81%; VN: 12%; FP: 1%; FN: 6%; S: 93%; E: 92.3%; Ef.: 97%; VPP: 98.7%; VPN: 66%; TFP: 1.25%; Benign lesions: 22.5%; Malignancy lesions: 65.5%; non lesions: 12%; complications: severe: 1%, non significance: 5%. CONCLUSIONS: Fine needle aspiration cytology guided by ultrasound has high sensibility, specificity, efficacy, with low value of false positive. However, it has high incidence of false negatives and negative predictive value. We recommend diagnostic procedures when the suspicion of tumor is high did the cytology is negative.

Abdominal Injuries↗

[Primary gastrointestinal lymphoma].

20 patients were evaluated and found to have a radiologic-endoscopic diagnosis of primary gastrointestinal lymphoma, in the Digestive Tract Department of the "Padre Machado" Oncological Hospital in a 19 years period (1970-1989). In 17 patients diagnosis of non-Hodgkin's Lymphoma was made and the 3 other patients were diagnosed with the Hodgkin's Lymphoma. It was located more frequently in the stomach: 14 (70%). Through double contrast radiology, endoscopy and deep biopsy, the diagnosis was made in 12 (67%) patients. The most frequent hystological type was diffuse histiocytic lymphoma. Surgery was the most used treatment. The value of double contrast radiology, and deep biopsy stand out as adequate methods to obtained a positive diagnostic, avoiding unnecessary surgical procedures.

Adolescent↗

[Colonoscopic dilator: a new instrument in the management of benign stenosis of the colon and rectum].

Experience with a colonoscope with a distal segment that allows for the incorporation of dilating olives of the Eder Puestow type is presented. 15 patients with the diagnosis of benign stenosis of the colon or rectum who suffered of abdominal pain and constipation were treated. In 13 patients it was possible to eliminate the patients symptoms. There where no complications. The dilating colonoscope is a valid, alternative in the management of stenosis of the colon and rectum.

Colonic Diseases↗

[Colitis caused by radiation: 20 years' experience].

The 20 year experience with diagnosis and management of radiation colitis at the Gastroenterology Department of the Hospital Oncológico "Padre Machado" is presented. Of 404 cases, 98% were treated for carcinoma of the cervix. The most frequent symptoms were rectal bleeding (71%) and changes in the intestinal habitus (27.2%). Symptoms were present from one month to one year prior to radiation. Flexible sigmoidoscopy in 77.5% of patients showed Grade I and II actinic disease, and X Ray studies sowed Grade II and III in 80%. Thirty eight patients required surgical treatment.

Adult↗

[Colonoscopy as primary procedure in the diagnosis of colonic neoplasms].

Experience with colonoscopy as an initial procedure in the study of the colon is presented. 3.450 colonoscopies in patients with GI symptoms were performed by trained endoscopists using the intermediate length scopes (130cm) without fluoroscopy. In 90% of the cases the whole colon was studied in a mean time of 20 minutes. 382 neoplasms (11.07%) were diagnosed. Polips represented 90% of the lesions and 34.3% of them were adenomas. 30% of the adenomas and 34.4% of the malignant tumors were localized in the right colon. We emphasise that 82.7% of the polips found in the right colon were adenomas. As a side effect we had a sigmoid perforation, it represents 0.03%. Colonoscopies performed by a trained endoscopist is a highly diagnostic method with low degree of complications, making it the procedure of choice in the study of the colon in specialized centers.

Adenoma↗

[Ambulatory laparoscopy].

We present our experience with laparoscopy in 600 outpatients with several diseases in seven years (1982-1988). We performed 707 studies in 594 patients (99%), in six cases (1%) the examination was not feasible because of intra-abdominal adhesions. In 235 patients (39.16%) previous abdominal surgery was not considered a contraindication for the examination. We performed 295 hepatic biopsies, 69 adhesions cuts, 9 laparoscopic placement of Tenckhoff catheter and other procedures. The incidence of complications was 5.23%, related to laparoscopy 3.67% and to procedures 1.55%. Major complications occurred in four patients (0.56%), surgical intervention was required in one patient (0.14%). We neither had infectious complications, nor mortality. We conclude that laparoscopy can be an ambulatory procedure, because it has a low incidence of complications in skilled hands and is well tolerated.

Adolescent↗

[Transrectal ultrasonography in the assessment of anal and rectal tumors].

Transrectal ultrasonography was initially devised for prostatic evaluation but it has also been shown to be useful in the study of carcinoma of Rectum and Anus. 3 patients with carcinoma of the anal canal and 17 with carcinoma of the rectum were studied in order to define invasion of neighbouring organs and regional nodes. In 11 patients (55%) the extension of the tumor was to muscular layer. In 5 patients (25%) the study showed invasion to peri-rectal fat and presence of lymph nodes in 10 cases. In 4 patients (20%) the procedure showed invasion to neighbouring organs and preoperative radiation treatment was the indication.

Adenocarcinoma↗

[Heat probe: its use in the palliation of stenosing and bleeding tumors of the digestive tract. Preliminary report].

We present our experience with the use of Heater Probe (H.P.) of the management of malignant stenoses of Gastrointestinal (G.I.) tract. We treated 6 patients: 4 with esophageal cancer, 1 cancer of rectum and 1 malignant infiltration of sigmoid colon. The symptoms were: dysphagia: 4 cases, rectal bleeding: 1 case and bleeding plus obstruction: 1 case. The symptoms were relieved in 5 of the 6 cases. In 1 case with dysphagia there were not response. The H.P. can represent a valid alternative in the palliation of malignant obstruction.

Cautery↗

[Endoscopic management of biliary fistula].

From January 1991 to July 1993 we diagnosed 16 patients with biliary fistulas. Nine patients showed a fistula of the stump after cholecystectomy (two laparoscopic and the rest in a conventional form). In none was there any evidence of residual stones. Three patients that showed biliary fistula who had residual stones which was no diagnosed during surgery. Four patients had biliary fistulas at different levels after abdominal traumas due to bullet wounds. All the patients were treated endoscopically by means of endoscopic sphincterotomy and in one of them it was necessary to place a biliary stent due to the fact that there was a stricture under the level of the fistula. One patient who, in addition to the fistula had an abscess was drained guided by ultrasound after the sphincterotomy. The evolution of the patients was satisfactory. There were no complications because of the procedure.

Adolescent↗

[Colitis due to radiation: endoscopic management with heat probe].

Rectal bleeding is a frequent symptom in radiation colitis, and is due to vascular lesions usually confined to the rectum. We present our preliminary experience with the use of the heater probe, in eight patients with radiation proctitis, whose main symptom was rectal bleeding. Six patients had radiation for carcinoma of the cervix and 2 had endometrial cancer. One to four sessions of coagulation were performed with an intensity of 200 to 400 Joules per session. In all patients a good response was obtained, bleeding diminished or stopped completely, with improvement of blood counts and the need for transfusions. We think that heater probe is a good therapeutic alternative, for the management of these difficult complication.

Cautery↗

[Needle sphincterotomy: a safe method].

We performed needle papillotomy in 26 patients. When the biliary tract was not approach by conventional methods. We used an home made sphincterotomy and begin the incision at the papillar orifice and cut in cephalic direction to the 11-12 o'clock, and stop the cutting when we observe bile flow or choledochus mucosa. The only complication was bleeding in two patients and it stopped with epinephrine injection. There were not perforations or mortality. We conclude that needle papillotomy is a safe and useful method in selected cases.

Humans↗

[Splenic focal lesion in oncologic patients diagnosed by ultrasound].

Focal lesion of the spleen are infrequent, they appear in 2-4% of patients with malignancies, in our experience we found metastases in nineteen oncologic patients (0.54%) this fact modified the staging prognosis and therapeutic. All the cases were correlated with laparoscopy, fine needle biopsy guided by ultrasound, and or laparotomy. It is emphasized tha the spleen's size was normal in 47.4%. The usual appearance was multiple focal lesions in 89.5% and the sonography pattern of the lesion was variable: Hypoechoic in 63.2% hyperechoic an mixed in 15.8% respectively and cystic in 5.3%. We conclude that ultrasound is an excellent non invasive method to detect focal lesions of the spleen in oncologic patient, where is necessary to know the histology of this lesions, fine needle guided biopsies, can be done safely.

Biopsy, Needle↗