Response to Alpha-Interferon Treatment of the Congenital Dyserythropoietic Anemia type I in Two Sicilian Beta Thalassemia Carriers.

Congenital dyserythropoietic anemia type I (CDAI) is an autosomal recessive inherited haematological disorder associated with moderate-to-severe anemia characterized by ineffective erythropoiesis with distinct morphological abnormalities in erythroid precursors. We present two case of congenital dyserythropoietic anemia type I in two Sicilian patients heterozygous for ß0 39 globin gene cod 39 C > T with marked bone marrow abnormalities, responding to treatment with alpha interferon. The diagnosis was established using routine haematological and biochemical test, light and electron microscopy; molecular analysis of the CDAN1 gene associated to the CDAI disease was performed. The response to the treatment was monitored using the hemoglobin levels, the red cell count, the reticulocyte count and the transfusional requirement. This report points out the usefulness of the treatment with interferon alpha in two Sicilian beta thalassemia carriers, in which the therapy was well tolerated without producing any side effects; in these patients the transfusion requirements after the initiation of interferon therapy decreased.

New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia.

Congenital dyserythropoietic anemia type I is an autosomal recessive disorder associated with macrocytic anemia, ineffective erythropoiesis, iron overloading and characterized by abnormal chromatin ultrastructure in erythroblasts such as internuclear chromatin bridges, spongy heterochromatin and invagination of the nuclear membrane. A 58-year-old Causasian man with chronic hemolytic anemia, heterozygous for ß (+) -globin IVS1, nt110 G>A mutation (causing abnormal alpha:beta globin chain ratio) showed clinical, laboratory and hematological features suggesting diagnosis of CDA1. Sequence analysis of CDA-related genes revealed compound heterozygosity for two novel mutations in the CDAN1 gene: a frameshift mutation 3367 del 4 (TTAG) in exon 25 and a missense mutation c.1811 G>T in exon 11 causing an aminoacid change from glycine to valine at codon 565 (G565V). One of the propositus' brothers showed the same gene mutations. As the CDA1 can mimic thalassemia, a frequent misdiagnosis is possible especially in countries where the prevalence of thalassemia is high. A strong clinical suspicion in patients who do not reveal a clear genetic basis for presumed thalassemia may help clinch the correct diagnosis.

Interventional techniques in vascular trauma.

This article addresses in detail the newer role for interventional angiography, including diagnosis and newer angioembolization techniques used to control bleeding and to deal with complications of vascular injuries.

Radiologic gastrojejunostomy and percutaneous endoscopic gastrostomy: a prospective, randomized comparison.

PURPOSE: To compare the efficacy of radiologic guided placement of percutaneous gastrojejunostomy (PGJ) and percutaneous endoscopic gastrostomy (PEG). MATERIALS AND METHODS: Patients were randomized to PGJ (n = 66) or PEG (n = 69). Indications for gastrostomy were need for prolonged enteral nutrition (97%) or gastrointestinal decompression (3%), with etiologies of neurologic impairment (81%), head and neck neoplasm (12%), bowel obstruction (3%), or other (4%). Mean follow-up was 202 days and 30-day follow-up was obtained for 85% of patients. RESULTS: PEG was successful in 63 of 69 (91%) patients, while PGJ established access in all of 66 attempts (100%) (P = .014). Average procedural time was 53 minutes for PGJ and 24 minutes for PEG (P = .001). At 30-day follow-up, there were 33 and 45 complications in the PGJ and PEG groups, respectively. This difference was due to the greater incidence of pneumonia in the PEG group (P = .013). Long-term tube-related complications occurred with 17 PGJs and four PEGs (P = .007). The PGJ cost more than PEG, but this advantage was offset by the cost of complications. CONCLUSION: PGJ had higher success rate and fewer complications, due to a lower incidence of pneumonia. PEG took less time to perform, cost less, and required less tube maintenance.

Management of T tubes for common bile duct stones: a new technique.

BACKGROUND: The optimal treatment of common bile duct (CBD) stones is controversial, and depends on local expertise, the patient's medical condition and the time of diagnosis. Current practice entails a wide variation in the duration of leaving T tubes in place, anywhere from 7 to 30 days, and in the time to postoperative cholangiogram. Here we present a new technique for T-tube placement and management of secondary or retained CBD calculi that reduces T-tube duration to

Percutaneous transluminal endovascular graft placement for massive hemorrhage caused by recurrent cervical carcinoma-associated erosion of the external iliac artery.

Massive hemorrhage and shock resulting from inoperable recurrent cervical carcinoma-associated erosion of the left external iliac artery was treated with percutaneous transluminal placement of an endovascular graft with immediate hemostasis and maintenance of lower-extremity perfusion.

Prospective randomized trial of a metallic intravascular stent in hemodialysis graft maintenance.

PURPOSE: To evaluate percutaneous transluminal angioplasty (PTA) alone versus PTA and flexible self-expanding stent placement for the management of hemodialysis access graft stenoses. MATERIALS AND METHODS: Thirty-seven grafts in 34 patients were evaluated for abnormal intradialytic parameters (n = 27) or occlusion (n = 10). Angiography identified stenoses (mean, 69%; range, 50%-95%) at or within 3 cm of the vein-graft junction (70%) or in the peripheral outflow vein (30%) that had recurred within a 6-month period after previous PTA. They were randomized to PTA alone (n = 20) or PTA with Wallstent (n = 17). Additional lesions were treated by PTA alone, and a mean of 1.4 (range, 1-3) lesions were treated per patient. Significant differences existed in the mean number of previous accesses (1.8 and 0.8 in the PTA and stent groups, respectively) and in the mean number of previous interventions in the current access (1.8 and 2.9, respectively). End points were subsequent radiologic or surgical intervention, transplantation, and death. RESULTS: Technical success was 100% (mean residual stenosis, 12%; range, 0%-30%). The primary patency of 128 days and secondary patency of 431 days were similar for both groups. Secondary patency required a mean of 1.8 and 1.6 additional interventions for the PTA and stent groups, respectively. The adjunctive stent placement increased the cost of the procedure by 90%. CONCLUSION: Despite significant added costs, there was no advantage to stent placement for recurrent peripheral hemodialysis graft stenoses that were already adequately dilated with balloon angioplasty.

Natural history of arterial injuries diagnosed with arteriography.

PURPOSE: To evaluate the natural history of untreated arterial injuries identified at arteriography. MATERIALS AND METHODS: The medical charts and radiographs were reviewed for all patients with arterial injuries identified during arteriography who were managed by means of nonoperative observation and underwent follow-up arteriography. RESULTS: Eighty-six nonrandomized patients with 105 arterial injuries were identified. These included 33 narrowed segments, two dilated segments, 23 intimal defects, 13 occlusions, 12 false aneurysms, 13 arteriovenous fistulas (AVFs), and five extravasations. Four vessels initially considered normal were subsequently found to have injuries. The average duration of observation was 23.5 days (range, 1-1,900 days). Forty-two arterial abnormalities healed spontaneously without other intervention. Thirty-eight "minimal" injuries improved or healed, whereas 25 worsened. Thirteen transmural injuries improved, whereas 12 progressed. There was no significant morbidity or mortality due to the delay involved with sequential studies. CONCLUSIONS: The natural history of these abnormalities was variable and unpredictable. Nonocclusive "minimal" injuries rarely cause ischemic or hemorrhagic complications. Although symptomatic AVFs have a low probability of spontaneous resolution, asymptomatic lesions may close and the risks associated with a few months of observation are minimal. Close follow-up is essential if a nonoperative approach is undertaken.

Angiographic findings in pelvic fractures.

Pelvic fractures are high energy injuries indicative of significant trauma. Hypotension and significant blood loss is common in skeletally unstable pelvic fractures. Potential sites of intrapelvic bleeding include fractured bone edges, venous injuries and/or arterial vascular injuries. In an attempt to define the relationship of fracture pattern to arterial injury, a specific subset of 39 patients with pelvic fractures who underwent angiography for hemodynamic instability or ongoing blood loss were reviewed retrospectively. In 35 patients with definable arterial injuries, 20 (57%) had multiple bleeding sites. Posterior arterial bleeding (internal iliac or its posterior branches) was statistically more common in patients with unstable posterior pelvic fractures, and anterior arterial bleeding (pudendal or obturator) was more common in patients with lateral compression injuries. The pudendal artery was the most commonly injured vessel in this series. The superior gluteal artery was the most commonly injured vessel associated with posterior pelvic fractures. There was no correlation between fracture pattern and survival. The injury severity score however, did indirectly correlate to survival. In addition, the presence of hypotension (systolic blood pressure < or = 90) at the time of arrival to the trauma center was found to significantly increase mortality.

Internal carotid artery gunshot wounds.

OBJECTIVE: To review a series of patients who sustained internal carotid artery (ICA) gunshot wounds. DESIGN, MATERIALS, AND METHODS: We retrospectively studied the demographics and clinical presentation, angiographic findings, methods of treatment, and outcome of 38 consecutive patients who had ICA injury identified by angiography. RESULTS: Thirty-four of 38 patients were symptomatic with neck hematomas (32 patients), active hemorrhage (12 patients), and/or neurologic deficit (10 patients). Angiography showed active bleeding in 22 patients and occlusion in 16 patients. Twelve patients were treated operatively by ligation (seven patients), repair (four patients), or intracranial/extracranial bypass (one patient). Twenty-six patients were managed nonoperatively either by angioplasty (one patient), embolotherapy (17 patients), or observation alone (eight patients). Percutaneous balloon catheters were also used in three patients for vascular control of the ICA before operative repair or as a method of assessing intracranial collateral circulation. The mortality of 18.4% was largely related to strokes. CONCLUSIONS: Penetration of the ICA is a very severe injury with a high mortality. The major cause of death in this series was related to neurologic damage associated with carotid injury and shock. However, neurologic deficit among the survivors was uncommon and often resulted from emboli. Interventional radiology can play an important role in the management of these wounds and often obviates the need for operative exploration.

Angiography and transcatheter arterial embolization of vascular injuries of the face and neck.

The condition of patients sustaining penetrating neck trauma often appears deceptively stable, even when major structures have been injured. The clinician must identify patients who require treatment and limit invasive procedures in those without significant injuries. Angiography is often used to search for vascular damage following penetration of the neck and face. The charts of 401 hemodynamically stable patients with penetrating cervicofacial wounds who were evaluated by angiography followed, when necessary by either transcatheter arterial embolization and observation or surgery were reviewed. One hundred twelve patients (27.9%) had 131 vascular injuries identified by angiography; 77 (68.8%) of these patients sustained injuries to zone III of the neck or the face. The most commonly injured vessels were the internal carotid artery (ICA), the vertebral artery, and the external carotid artery (ECA) system. Multiple vessel injuries were seen in 17 (15.2%) of 112 patients and were more likely in patients with wounds in zone III or above than in those wounded in zone II or below (20.8% vs. 2.9%, respectively; P < .025). Injuries to the internal maxillary artery (IMA) (60%), ECA (53.3%), and the ICA (30.8%) were also significantly more likely to be accompanied by additional vascular injuries (P < .005). No clinically significant venous injuries were missed. Complications were noted in only 4 patients, and no deaths occurred as a result of angiography. Angiography is a safe, effective modality in the head and neck trauma setting. Particular scrutiny should be given to patients with zone III or facial wounds, particularly those with documented ICA, IMA, and ECA injuries, since these patients have a higher incidence of multiple vascular injuries.