Biomedical subjects
Publications and source records attributed to S Pardo.
A late-onset presentation of lipoamide dehydrogenase (E3) deficiency is described in a North American Ashkenazi Jewish (AJ) family. Diagnosis was made by urine organic acid and molecular analyses.
Retroaortic left renal vein joining the left common iliac vein is a rare congenital anomaly in the development of the inferior vena cava. To our knowledge, only one case has been reported in the literature; however, its imaging features have never been described. A 27-year-old male presented with a 1-year history of recurrent right flank pain, dysuria, hematuria, and fever (39 degrees C). Computed tomography and MR venography showed a retroaortic left renal vein joining the left common iliac vein. We present the CT and MR venography findings and discuss their feasibility in showing this congenital anomaly.
OBJECTIVE: The objectives of this study were 1) to construct new error grids (EGs) for blood glucose (BG) self-monitoring by using the expertise of a large panel of clinicians and 2) to use the new EGs to evaluate the accuracy of BG measurements made by patients. RESEARCH DESIGN AND METHODS: To construct new EGs for type 1 and type 2 diabetic patients, a total of 100 experts of diabetes were asked to assign any error in BG measurement to 1 of 5 risk categories. We used these EGs to evaluate the accuracy of self-monitoring of blood glucose (SMBG) levels in 152 diabetic patients. The SMBG data were used to compare the new type 1 diabetes EG with a traditional EG. RESULTS: Both the type 1 and type 2 diabetes EGs divide the risk plane into 8 concentric zones with no discontinuities. The new EGs are similar to each other, but they differ from the traditional EG in several significant ways. When used to evaluate a data set of measurements made by a sample of patients experienced in SMBG, the new type 1 diabetes EG rated 98.6% of their measurements as clinically acceptable, compared with 95% for the traditional EG. CONCLUSIONS: The consensus EGs furnish a new tool for evaluating errors in the measurement of BG for patients with type 1 and type 2 diabetes.
Although major constituents of the thick filaments of vertebrate striated muscles, the myosin binding proteins (MyBP-C and MyBP-H) are still of uncertain function. Distributed in the cross-bridge bearing zone of the A-bands of myofibrils, in a series of transverse 43 nm stripes, the proteins are constructed of a tandem series of small globular domains, each composed of approximately 90-100 amino acids, which have sequence similarities to either the C2-set of immunoglobulins (IgC2) and the fibronectin type III (FnIII) motifs. MyBP-C is composed of ten globular domains ( approximately 130 kDa) whereas MyBP-H is smaller ( approximately 58 kDa) and consists of a unique N-terminal segment followed by four globular domains, the order of which is identical to that of MyBP-C (FnIII-IgC2-FnIII-IgC2). To improve our understanding of this protein family we have characterized the domains in each of these two proteins which are required for targeting the proteins to their native site(s) in the sarcomere during myogenesis. Cultures of skeletal muscle myoblasts were transfected with expression plasmids encoding mutant constructs of the MyBPs bearing an N-terminal myc epitope, and their localization to the A-band examined by immunofluorescence microscopy. Based on the clarity and intensity of the myc A-band signals we concluded that constructs encoding the four C-terminal motifs of MyBP-C and MyBP-H ( approximately 360 amino acids) were all that was necessary to efficiently localize each of these peptides to the A-band. Truncation mutants lacking one of these 4 domains were less efficiently targeted to the C-zone of the sarcomere. Deletion of the last C-terminal motif of MyBP-H, its myosin binding domain, abolished all localization to the A-band. A chimeric construct, HU-3C10, in which the C-terminal motif of MyBP-H was replaced by the myosin binding domain of MyBP-C, efficiently localized to the A-band. Taken together, these observations indicate that MyBP-C and MyBP-H are localized to the A-band by the same C-terminal domain, composed of two IgC2 and two FnIII motifs. A model has been proposed for the interaction and positioning of the MyBPs in the thick filament through a ternary complex of the four C-terminal motifs with the myosin rods and titin.
This paper reports on a case of colonic bleeding from an angiodysplastic lesion of the ascending colon in a 71-year-old diabetic woman, resulting in severe anemia in the patient, who was treated using the BICAP electrocoagulation system. The present report includes a description of this technique, which involves the use of a 7-F hemostatic probe connected to a 25-W BICAP source.
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OBJECTIVE: To evaluate the effectiveness, comfort, and ease of use of insulin pen injections with a 31-gauge, 8-mm needle. METHODS: In 50 study subjects (24 patients with type 1 insulin-dependent diabetes and 26 insulin-using patients with type 2 diabetes), we assessed the delivery of insulin, residual insulin leakage, glycemic control, plunger depression pressure, and perceived pain associated with the B-D 31-gauge, 8-mm pen needles in comparison with the B-D conventional 30-gauge, 8-mm pen needles, while the patient used their own insulin pens (Novo or B-D). The study subjects injected their usual dose of regular and NPH insulin using the 30-gauge, 8-mm needle during the first 3 weeks of the study. This period was followed by two 3-week crossover segments of the study with either needle assigned in random sequence. RESULTS: No statistically significant differences were noted in glycemic control or perceived pain of injection between the two needles. The interaction between the two needles and the two insulin pen brands on glycemic control was not statistically significant. Plunger depression pressure increased with the increase in the gauge of the needle and with increases in size of dose of injected insulin (P<0.01). B-D pen users reported lower plunger pressure ratings in comparison with Novo pen users (P<0.01), regardless of the needle type and dose range. Both the insulin pen type and the needle type individually had statistically significant (P<0.01) effects on the residual insulin leakage from the needle tip after injection; however, their interaction was not statistically significant. Insulin doses greater than 30 units were associated with increased leakage (P<0.01). As needle retention time decreased, residual insulin leakage from the needle tip after injection increased (P<0.01), regardless of the needle used. CONCLUSION: The 31-gauge insulin pen needles are safe and effective for the delivery of insulin. With both 30-gauge and 31-gauge needles, attention to injection technique is essential to ensure complete delivery of insulin, particularly with administration of large doses.
PURPOSE: The obstruction of a bowel segment at both ends results in a closed loop obstruction. Progression to strangulation frequently occurs if surgical intervention is delayed. The role of plain radiography in the diagnosis of closed loop obstruction and strangulation has been shown to be limited, while the recent literature has demonstrated the growing role of computed tomography (CT). This paper reports our experience in the study of closed loop obstruction by CT. MATERIAL AND METHODS: The CT studies of 12 patients with surgically confirmed closed loop obstruction were retrospectively reviewed. The following CT signs were used for the diagnosis: a) fluid-filled distended loops, b) C-shaped incarcerated loop, c) radial distribution of several dilated bowel loops and mesenteric vessels converging toward the point of obstruction, d) triangular or fusiform tapering of the closed loop and/or whirl sign in the site of obstruction. RESULTS: On the basis of these signs, the diagnosis was made in 11 of 12 patients. Only 1 patient, who had a negative CT study, was positive at a subsequent enteroclysis. CT findings of strangulation were associated in 3 cases: slight wall thickening with vascular congestion and mesenteric ascites, confirmed at surgery. DISCUSSION AND CONCLUSIONS: Small bowel obstruction can be distinguished into simple and closed loop obstructions. The latter is a more severe condition which is often complicated by strangulation with vascular impairment, edema and intramural and mesenteric hemorrhage. Consequent arterial insufficiency rapidly leads to ischemia, infarction and necrosis. The radiologist plays a role in the early recognition of the closed loop obstruction and of any sign of strangulation. The role of CT in the diagnosis and workup of patients with suspected intestinal occlusion has been analyzed in the literature with reported 63% sensitivity, 78% specificity and 66% accuracy. CT is also capable of revealing the causes of occlusion in 73-95% of cases. The above CT signs, as confirmed in our experience, allow to identify closed loop obstruction and also small bowel strangulation, thus supplying a valuable contribution to diagnosis and accurate preoperative evaluation. We conclude that CT can accurately demonstrate the presence of closed loop obstruction and can be the technique of choice in patients in whom obstruction is associated with clinical signs suggestive of strangulation.
PURPOSE: To report our experience in the use of CT in the evaluation of adult intestinal intussusception. A correlation between radiologic findings and surgery was attempted in order to verify our diagnostic hypothesis. MATERIAL AND METHODS: Intestinal intussusception was diagnosed by CT between September 1993 and December 2000 in 10 patients (6 men and 4 women, age range 18-82 years). For 9/10 patients the diagnosis was confirmed by surgery; in one patient the condition resolved spontaneously as confirmed by a follow-up CT performed 24 hours after the first. Six patients were studied by a third generation CT and four by a helical CT unit. Five patients were administered iodinated oral contrast medium and in seven i.v. iodinated contrast medium. Diagnosis was hypothesized at CT on the basis of the following aspects: target, sausage, and pseudokidney. RESULTS: Surgery confirmed the CT diagnosis of intussusception in 9/10 patients; in the patient with transient intussusception a spontaneous resolution was confirmed at follow up CT after 24 h. In the 10 patients studied the following CT aspects were observed in the bowel involved by intussusception: a target aspect in 4 patients; a sausage aspect in 4 patients; in one of them a peritoneal effusion was also present; a pseudokidney aspect was observed in 2 patients, with a long tract intussusception and peritoneal adipose tissue; in both a hyperdensity of the peritoneal adipose tissue and enlarged vessels, that were herniated within the lumen of the bowel, were recognized. At surgey the causes of intestinal intussusception were: malignant tumors of the colon (4 cases), hamartomatous polyps of the small bowel (2 cases), mixoid fibrolipoma of the colon (one case), leiomyoma of the distal ileum (one case). In one patient no cause could be identified at CT, but the condition was found to co-exist with acute appendicitis at surgery. CONCLUSIONS: CT is an accurate technique in the evaluation of intestinal intussusception in adults. It allows to identify the condition, its site, and sometimes the type of the lesion causing the intussusception, and any vascular alteration, thus playing an important role in establishing the most appropriate therapeutic strategy.
PURPOSE: To report our experience pertaining to three cases of intra-articular osteoid osteoma assessed by means of integrated imaging and review of literature. MATERIALS AND METHODS: Medical records, radiologic and nuclear medicine findings pertaining to three cases of intra-articular osteoid osteoma were retrospectively evaluated and compared with those of surgery. All the patients (2 males, one female; age range 8-38 ys) affected by intra-articular osteoid osteoma respectively of the elbow, tibio-talar joint and hip were evaluated by means of radiographic examination and Magnetic Resonance Imaging (MRI). SE T1-w and T2-w, GRE T2*-w, GRE 3D T1-w and STIR pulse sequences were used and axial, coronal and sagittal images were acquired. Two patients underwent CT scan. One patient underwent skeletal scintigraphy. All the patients underwent surgery. RESULTS: In 2 out of 3 cases plain radiography allowed the radiologist to suspect the presence of the lesion. In the remaining one, plain radiography failed to detect both the nidus and the perilesional osteosclerosis; nevertheless, a small osteochondral erosion of the humeral condyle suggested the presence of joint inflammation, thus leading to further investigation. CT scan well depicted the presence of the nidus and, in one case, the presence of joint effusion. MRI was always able to detect the nidus, which presented as lesion of low to intermediate signal in T1-w images, low signal in the T2-w images in one patient and high signal in the remaining two; in these latter STIR images showed high intensity nidus and edema of neighbouring cancellous bone. Furthermore, in all patients MRI clearly depicted joint effusion. Skeletal scintigraphy demonstrated both the lesion and the inflammatory involvement of neighbouring soft tissue. In all patients histologic specimen confirmed the diagnosis of osteoid osteoma with joint inflammation and synovitis. CONCLUSIONS: According to our results and literature data the pre-surgical diagnosis of osteoid osteoma is very difficult to achieve. Indeed, only the combination of clinical information and radiologic and nuclear medicine findings enables the radiologist to make the right diagnosis.
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